41. The Journal Of Urology - UserLogin Hypercalciuria and Nephrocalcinosis in the oculocerebrorenal syndrome We treated 5 boys with the oculocerebrorenal syndrome and elevated urinary http://www.jurology.com/pt/re/juro/fulltext.00005392-199504000-00062.htm

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42. The Journal Of Urology - Abstract: Volume 153(4) April 1995 P 1244-1246 Hypercal Hypercalciuria and Nephrocalcinosis in the oculocerebrorenal syndrome. The oculocerebrorenal (Lowe) syndrome is an Xlinked recessive disorder http://www.jurology.com/pt/re/juro/abstract.00005392-199504000-00062.htm

LWWOnline LOGIN eALERTS REGISTER ... Archive Hypercalciuria and Nephrocalcinosis... ARTICLE LINKS: Fulltext Hypercalciuria and Nephrocalcinosis in the Oculocerebrorenal syndrome. Journal of Urology. 153(4):1244-1246, April 1995. Sliman, Gregory A.; Winters, William D.; Shaw, Dennis W. W.; Avner, Ellis D. * Abstract: Subscribe to RSS feed utrdc-pt02 Release 4.0

43. Journal Of Glaucoma - Abstract: Volume 14(3) June 2005 P 181-185 Glaucoma With T Glaucoma With the oculocerebrorenal syndrome of Lowe. Journal of Glaucoma.14(3)181185, June 2005. Walton, David S MD *; Katsavounidou, Garyfallia MS +; http://www.glaucomajournal.com/pt/re/jglaucoma/abstract.00061198-200506000-00002

LWWOnline LOGIN eALERTS REGISTER ... Archive Glaucoma With the Oculocerebrorenal... ARTICLE LINKS: Fulltext PDF (403 K) Permissions Glaucoma With the Oculocerebrorenal Syndrome of Lowe. Journal of Glaucoma. 14(3):181-185, June 2005. Walton, David S MD *; Katsavounidou, Garyfallia MS +; Lowe, Charles U MD Abstract: Purpose: To further describe the glaucoma with the oculocerebrorenal syndrome of Lowe (OCRL) including the responsible filtration angle abnormalities and response to treatment. Methods: The scientific literature regarding the glaucoma associated with OCRL from 1952, when the first report of the syndrome appeared, to the present was reviewed. The medical records of 7 patients with OCRL were studied. The occurrence of glaucoma, corneal changes secondary to glaucoma, gonioscopic abnormalities, iris features, and response to glaucoma surgery were recorded. Conclusion: A primary X-linked infantile glaucoma is a defining and frequent component of OCRL and is secondary to expression of a primary filtration angle anomaly. Goniotomy was unsuccessful in all (8) operated eyes. The adverse effects of cataract surgery on the filtration angle structures may influence the results of goniotomy surgery by superimposing a secondary aphakic glaucoma component that may explain the need for alternative glaucoma surgery. Subscribe to RSS feed utrdc-pt01 Release 4.0

44. Journal Of Glaucoma - UserLogin The oculocerebrorenal syndrome of Lowe (OCRL) is a rare Xlinked recessive oculocerebrorenal syndrome of Lowe is caused by a mutation of the OCRL-1 gene http://www.glaucomajournal.com/pt/re/jglaucoma/fulltext.00061198-200506000-00002

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45. UniProtKB/Swiss-Prot Entry Q01968 [OCRL_HUMAN] Inositol Polyphosphate 5-phosphat The Lowe s oculocerebrorenal syndrome gene encodes a protein highly homologous oculocerebrorenal syndrome of Lowe three mutations in the OCRL1 gene http://www.expasy.org/uniprot/Q01968

ExPASy Home page Site Map Search ExPASy Contact us Swiss-Prot Search Swiss-Prot/TrEMBL Swiss-Prot/TrEMBL (full text) PROSITE SWISS-2DPAGE ENZYME NEWT Taxonomy HAMAP families ExPASy web site for The ExPASy Server requires Javascript to be fully functional. You may not see all the information available for this page (More information) UniProtKB/Swiss-Prot entry Entry info Name and origin References Comments ... Tools Note: most headings are clickable, even if they don't appear as links. They link to the user manual or other documents Entry information Entry name Primary accession number Secondary accession numbers Entered in Swiss-Prot in Release 26, July 1993 Sequence was last modified in Release 48, September 2005 Annotations were last modified in Release 48, September 2005 Name and origin of the protein Protein name Inositol polyphosphate 5-phosphatase OCRL-1 Synonyms EC Lowe's oculocerebrorenal syndrome protein Gene name Name: OCRL Synonyms: From Homo sapiens (Human) TaxID Taxonomy ... References NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM B). TISSUE Kidney DOI= ; PubMed=1321346 [ NCBI ExPASy EBI Israel ... Attree O.

46. SSBP - Society For The Study Of Behavioural Phenotypes Alternative names oculocerebrorenal syndrome of Lowe, Nussbaum, RL and Suchy,SF The oculocerebrorenal syndrome of Lowe (Lowe Syndrome) In The http://www.ssbp.co.uk/files/syndromes/lowes.htm

SSBP Information Sheet LOWE SYNDROME Alternative names : Oculocerebrorenal Syndrome of Lowe, Oculo-cerebro-renal Syndrome. First Description : In 1952, Lowe et al described three patients with abnormal renal function, bone disease, mental retardation and congenital glaucoma. They suggested that these patients may have been suffering from a previously unreported syndrome which arose from an inborn error in metabolism. Later studies confirmed the existence of an X linked disorder (Lowe Syndrome) which caused major abnormalities in the eyes, nervous system and kidneys. Incidence / Prevalence : Prevalence is estimated at only a few cases per 100,000 males. Genetic Aspects: Physical phenotype Cognitive aspects : A diagnosis of Lowe Syndrome is compatible with normal intelligence and approximately 10% of patients have intelligence within the normal range (Nussbaum and Suchy, 2001). However intellectual impairment is a common feature with median IQ in the moderately impaired range. Estimates of intelligence may be depressed due to the employment of tests which are not suited to individuals with visual impairment. Behavioural aspects: Behaviour disturbances can be the most problematic aspect of Lowe Syndrome for parents and carers. Maladaptive behaviours are seen in over 80% of cases and include self injurious behaviour, aggression and episodic outbursts (also called Lowe tantrum) (Kenworthy et al., 1993) . These outbursts along with negativism, stubbornness and stereotypies were found to be characteristic of Lowe Syndrome when age, gender, visual impairment and cognitive functioning were controlled for (Kenworthy and Charnas, 1995).

47. MeSH-D Terms Associated To MeSH-C Term Oculocerebrorenal Syndrome MeSHD terms associated to MeSH-C term oculocerebrorenal syndrome, G2D Home of the association of the corresponding term to oculocerebrorenal syndrome. http://www.bork.embl-heidelberg.de/g2d/c2d.pl?Oculocerebrorenal_Syndrome:unknown

48. Lowe Syndrome Lowe Syndrome, also known as oculo cerebro - renal syndrome, is a rare inheritedmetabolic oculocerebrorenal syndrome; Renal-Oculocerebrodystrophy http://my.webmd.com/hw/health_guide_atoz/nord109.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Lowe Syndrome Important It is possible that the main title of the report Lowe Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Cerebro-Oculorenal Dystrophy Lowe's Disease Lowe-Bickel Syndrome Lowe-Terry-MacLachlan Syndrome LS OCRL Oculocerebrorenal Dystrophy Oculocerebrorenal Syndrome Renal-Oculocerebrodystrophy Disorder Subdivisions None General Discussion Lowe Syndrome, also known as oculo-cerebro-renal syndrome, is a rare inherited metabolic disease that affects males. This disorder is characterized by lack of muscle tone (hypotonia), multiple abnormalities of the eyes and bones, the presence at birth of clouding of the lenses of the eyes (cataracts), mental retardation, short stature, and kidney problems. Other findings may include protrusion of the eyeball from the eye socket (enophthalmos); failure to gain weight and grow at the expected rate; weak or absent deep tendon reflexes; and multiple kidney problems (e.g., renal tubular dysfunction, renal hyperaminoaciduria, etc.). Lowe Syndrome is inherited as an X-linked genetic trait and symptoms develop due to lack of the enzyme phosphatidylinositol 4,5-biphosphate 5 phosphatase.

49. Lowe Syndrome Lowe Syndrome, also known as oculocerebro-renal syndrome, is a rare inheritedmetabolic disease oculocerebrorenal syndrome; Renal-Oculocerebrodystrophy http://www.bchealthguide.org/kbase/nord/nord109.htm

var hwPrint=1;var hwDocHWID="nord109";var hwDocTitle="Lowe Syndrome";var hwRank="1";var hwSectionHWID="nord109-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Lowe Syndrome Important It is possible that the main title of the report Lowe Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Cerebro-Oculorenal Dystrophy Lowe's Disease Lowe-Bickel Syndrome Lowe-Terry-MacLachlan Syndrome LS OCRL Oculocerebrorenal Dystrophy Oculocerebrorenal Syndrome Renal-Oculocerebrodystrophy Disorder Subdivisions None General Discussion Lowe Syndrome, also known as oculo-cerebro-renal syndrome, is a rare inherited metabolic disease that affects males. This disorder is characterized by lack of muscle tone (hypotonia), multiple abnormalities of the eyes and bones, the presence at birth of clouding of the lenses of the eyes (cataracts), mental retardation, short stature, and kidney problems. Other findings may include protrusion of the eyeball from the eye socket (enophthalmos); failure to gain weight and grow at the expected rate; weak or absent deep tendon reflexes; and multiple kidney problems (e.g., renal tubular dysfunction, renal hyperaminoaciduria, etc.). Lowe Syndrome is inherited as an X-linked genetic trait and symptoms develop due to lack of the enzyme phosphatidylinositol 4,5-biphosphate 5 phosphatase. Resources March of Dimes Birth Defects Foundation

50. Brusa-Torricelli Syndrome (www.whonamedit.com) Aniridianephroblastoma syndrome, oculocerebrorenal syndrome. Associated persons P.Brusa Robert W. Miller C. Torricelli Max Wilms http://www.whonamedit.com/synd.cfm/2404.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A recommendation: Hypography is an open community about science and all things related Brusa-Torricelli syndrome Also known as: Aniridia-Wilms’ tumour syndrome Aniridia-Wilms' tumor association Miller’s syndrome (Robert W. Miller) Synonyms: Aniridia-nephroblastoma syndrome, oculocerebrorenal syndrome. Associated persons: P. Brusa Robert W. Miller C. Torricelli Max Wilms Description: A congenital syndrome in which aniridia (congenital absence of the iris) and nephroblastoma (Wilms' tumour) is associated with mental retardation, craniofacial defects (microcephaly), growth retardation and skeletal anomalies, deformed pinna, genitourinary anomalies, hamartomas, and umbilical and inguinal hernias. Other frequent features include cataract and glycoma, hypospadias, hemihypertrophy, and horseshoe kidney. The syndrome affects both sexes but is more frequent in males. Since the early 1980s this disorder has commonly been referred to as WAGR syndrome. We thank Kelly Trout of the International WAGR Syndrome Association for for information submitted.

51. *300535 OCRL1 GENE; OCRL1 .0003 LOWE oculocerebrorenal syndrome OCRL, ARG577GLN. In a patient with asevere phenotype of Lowe syndrome (309000), Kawano et al. http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:300535] -e

52. 309000 LOWE OCULOCEREBRORENAL SYNDROME; OCRL 309000 LOWE oculocerebrorenal syndrome; OCRL. Alternative Titles; symbols.OCRL1 LOWE SYNDROME PHOSPHATIDYLINOSITOL 4,5BISPHOSPHATE 5-PHOSPHATASE http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:309000] -e

53. Disease, Medication, Symptom Etc Database Index : O Diseases Database oculocerebrorenal syndrome see Lowe s syndrome Oculocutaneous albinism (tyrosinasenegative) Oculocutaneous albinism (tyrosinase positive) http://www.diseasesdatabase.com/disease_index_o.asp

Diseases Database Index Sponsors Contact ... Previous Page Disease, medication, symptom etc database index : O Search see Oxygen OA see Osteoarthritis Oasthouse urine disease see Methionine malabsorption OAT deficiency see Ornithine ketoacid transaminase deficiency Obesity Obidoxime Oblimersen Obliterative bronchiolitis see Bronchiolitis obliterans Obnubilation see Brain failure O'Brien's granuloma see Actinic granuloma Obsessive-compulsive disorder Obstetric conditions Obstetric shock see Puerperal shock Obstruction of bile duct see Cholestatic jaundice Obstructive jaundice see Cholestatic jaundice Obstructive nephropathy see Hydronephrosis Obstructive sleep apnoea Obturator hernia Occipital horn syndrome Occult blood in stools see Faecal occult blood positive O-chlorobenzylidine malononitrile see CS gas Ochoa syndrome Ochronosis see Alkaptonuria Ockelbo disease see Sindbis virus Octapressin see Felypressin Octopressin see Felypressin Octreotide see Somatostatin Octylcyanoacrylate Ocular albinism type 1 Ocular cicatrical pemphigoid see Cicatricial pemphigoid Ocular coloboma-imperforate anus syndrome see Cat eye syndrome Ocular hypertelorism see Hypertelorism, ocular

54. Lowe Syndrome Information Diseases Database aka/or oculocerebrorenal syndrome aka/or LoweBickel syndrome. may cause orfeature + (Follow link for list.) belong(s) to the category of + (Follow link http://www.diseasesdatabase.com/ddb29146.htm

Diseases Database Index Sponsors Contact ... Previous Page Lowe syndrome information Search 5 synonyms or equivalents were found. Lowe syndrome aka/or Lowe-Bickel syndrome aka/or Lowe-Terry-MacLachlan syndrome aka/or Oculocerebral syndrome aka/or Oculocerebrorenal syndrome may cause or feature (Follow link for list.) belong(s) to the category of (Follow link for list.) Lowe syndrome: Definition(s) via UMLS Code translations and terms via UMLS Lowe syndrome: specific web sites Send Lowe syndrome to medical search engines (JavaScript enabled browsers only.) If your browser has no JavaScript you can still use these: Search using Internet medical databases Search using Internet search engines (non-specialist) We subscribe to the HONcode principles of the Health On the Net Foundation Valid XHTML 1.0 Served 2005-09-09 14:09:05 View metadata Last major update 2005-09-03. The medical information here is presented for education, background reading and general interest. The Diseases Database is not a diagnostic or clinical decision-making tool. Please consult your own licensed physician regarding diagnosis and treatment of any medical condition!

55. List Of Diseases Starting With O: Information From Answers.com Oculocerebral syndrome with hypopigmentation; Oculocerebrocutaneous syndrome;oculocerebrorenal syndrome; Oculocutaneous albinism immunodeficiency http://www.answers.com/topic/list-of-diseases-starting-with-o

showHide_TellMeAbout2('false'); Business Entertainment Games Health ... More... On this page: Wikipedia Or search: - The Web - Images - News - Blogs - Shopping List of diseases starting with O Wikipedia List of diseases starting with O A list of diseases in the English wikipedia. A B C D ... N O P Q R S ... Z O-Ob O Doherty syndrome O Donnell Pappas syndrome Obesity Obesophobia Obsessive-compulsive disorder Obstructive asymmetric septal hypertrophy Oc Occ-Och Occipital horn syndrome Occlusive Infantile ateriopathy Occult spinal dysraphism Occupational Asthma - Chemicals Occupational Asthma - Metals Occupational Asthma - Plants Occupational Asthma - Wood dust Occupational Asthma-Drugs OCD Ochoa syndrome Ochronosis, hereditary Ochronosis Ocu Ocul Ocula Ocular Albinism Ocular coloboma-imperforate anus Ocular convergence spasm Ocular Histoplasmosis Ocular melanoma Ocular motility disorders Ocular toxoplasmosis Oculo Oculo cerebral dysplasia Oculo cerebro acral syndrome Oculo cerebro osseous syndrome Oculo dento digital dysplasia Oculo digital syndrome Oculo facio cardio dental syndrome Oculo skeletal renal syndrome Oculo tricho anal syndrome Oculo tricho dysplasia Oculoa-Oculog Oculoauriculofrontonasal syndrome Oculoauriculovertebral dysplasia Oculocerebral hypopigmentation syndrome Cross type Oculocerebral hypopigmentation syndrome type Preus Oculocerebral syndrome with hypopigmentation Oculocerebrocutaneous syndrome Oculocerebrorenal syndrome Oculocutaneous albinism immunodeficiency Oculocutaneous albinism type 1 Oculocutaneous albinism type 2 Oculocutaneous albinism type 3

56. List Of Diseases Starting With L: Information From Answers.com Low birth weight dwarfism dysgammaglobulinemia; Lowe Kohn Cohen syndrome;Lowe oculocerebrorenal syndrome; Lowe syndrome; Lower limb anomaly ureteral http://www.answers.com/topic/list-of-diseases-starting-with-l

showHide_TellMeAbout2('false'); Business Entertainment Games Health ... More... On this page: Wikipedia Mentioned In Or search: - The Web - Images - News - Blogs - Shopping List of diseases starting with L Wikipedia List of diseases starting with L A list of diseases in the English wikipedia. A B C D ... K L M N O P ... Z La Lab-Lam Labrador lung Labyrinthitis syndrome Lachanophobia Lachiewicz Sibley syndrome Lacrimo-auriculo-dento-digital syndrome Lactate dehydrogenase deficiency type A Lactate dehydrogenase deficiency type B Lactate dehydrogenase deficiency type C Lactate dehydrogenase deficiency Lactic acidosis congenital infantile Ladda Zonana Ramer syndrome Lafora disease Lagophthalmia cleft lip palate Lambdoid synostosis familial Lambert syndrome Lambert-Eaton Myasthenic Syndrome (Lambert-Eaton paraneoplastic cerebellar degeneration) Lambert-Eaton syndrome Lamellar ichthyosis Lamellar recessive ichthyosis Lan-Lap Landau-Kleffner syndrome Landouzy-Dejerine muscular dystrophy Landy Donnai syndrome Langdon Down Langer Nishino Yamaguchi syndrome Langer-Giedion syndrome Langerhans cell granulomatosis Langerhans cell histiocytosis Laparoschisis Laplane Fontaine Lagardere syndrome Lar-Lat Large B cell diffuse lymphoma Laron-type dwarfism Larsen like osseous dysplasia dwarfism Larsen like syndrome lethal type Larsen syndrome craniosynostosis Larsen syndrome, dominant type

57. Floppy Infant Syndrome atonic diplegia, congenital cerebellar ataxia, kernicterus, chromosomal defects,oculocerebrorenal syndrome, cerebral lipidoses, PraderWilli syndrome, http://www.psyweb.com/Glossary/floppyi.jsp

58. Hyponatremia Management Nephrology Tubule Fanconi Syndrome. Wilson Disease (Autosomal recessive);Cytochrome C Oxidase deficiency; oculocerebrorenal syndrome of Lowe http://www.fpnotebook.com/REN131.htm

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59. Delayed Development NiemannPick Disease (Classic Infantile and Juvenile); Noonan Syndrone;oculocerebrorenal syndrome (Lowe Syndrome); Oral-Facial Digital Syndrome http://www.rogerknapp.com/medical/eci.htm

Delayed Development Evaluating children for proper development is sometimes difficult since there is such a wide variety in the rate of different children. Check with your doctor or compare your child with others of the same age. If you have concerns then you should call this Early Childhood Intervention (ECI) line and have your child evaluated. It can't hurt. Satisfy yourself that your child is in the normal range. ECI is paid by the government and can give your child therapy if they are behind the normal range of development or have disabilities. They serve up to age three. ECI services for children: Screenings and assessments, including hearing and vision. Physical, occupational, speech and language therapy. Activities to develop learning and eating skills. assistive technology. moving on to school or other services as needed at age 3 or when graduating from the program. nutritional services. supporting child care or preschool teachers of enrolled children. ECI services for families: education and counseling.

60. The Human Retina Transcriptional Profile Unigene Entry Hs.181060 Contains the OCRL1 gene for Lowe oculocerebrorenal syndrome protein OCRL1.Contains ESTs, STSs and GSSs, Protein similarity http://telethon.bio.unipd.it/GETProfiles/Retina/ESTs/Hs.181060.html

The Human Retina transcriptional profile Unigene entry Hs.181060 (Jan, 14th, 2000). Hs.181060 Homo sapiens APELIN Apelin; peptide ligand for APJ receptor SEE ALSO LocusLink OMIM SELECTED MODEL ORGANISM PROTEIN SIMILARITIES H. sapiens PID:g3171882 100 % / 820 aa M. musculus PID:g2766529 - inositol polyphosphate 5-phosphatase II 49 % / 725 aa R. norvegicus PID:g2708493 - synaptojanin II 37 % / 353 aa D. melanogaster PID:g2749755 - /prediction=(method: 34 % / 674 aa C. elegans PID:g3874363 - Similarirty to Human 75 KD inositol-1,4, 5-triphosphate 5-phosphatase 32 % / 626 aa S. cerevisiae PID:e239927 - ORF YNL106c 36 % / 321 aa MAPPING INFORMATION Chromosome X Cytogenetic Position Gene Map 98 Marker A006N02 , Interval DXS1047-DXS998 Gene Map 98 Marker stSG43006 , Interval DXS1047-DXS998 EXPRESSION INFORMATION cDNA sources Brain, Breast, CNS, Colon, Eye, Germ Cell, Kidney, Lung, Ovary, Pancreas, Placenta, Prostate, Stomach, Testis, Tonsil, Uterus, Whole embryo, breast, lung SAGE Gene to Tag mapping mRNA/GENE SEQUENCES (4) Homo sapiens DNA sequence from PAC 454M7 on chromosome Xq25-26.3. Contains the OCRL1 gene for Lowe Oculocerebrorenal Syndrome protein OCRL-1. Contains ESTs, STSs and GSSs Homo sapiens DNA sequence from PAC 454M7 on chromosome Xq25-26.3. Contains the OCRL1 gene for Lowe Oculocerebrorenal Syndrome protein OCRL-1. Contains ESTs, STSs and GSSs

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