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Description

The OCRL1 gene (oculocerebrorenal syndrome of Lowe) gene is located on chromosome Xq25. This gene encodes a phosphatase enzyme that is involved in actin polymerization and is found in the trans-Golgi network. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. [provided by RefSeq, Jul 2008] [NCBI Gene ID:4952] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

TypeSourceReference
WebcontentOnline Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Link to OMIM

Basic Part Properties

Part Name
OCRL1 gene
Part Display Name
OCRL1
Part Type
Component (Describes the core component or analyte measured)
Created On
2008-10-01
Construct for LOINC Short Name
OCRL1 gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP71432-6
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP71432-6

Language Variants Get Info

TagLanguageTranslation
zh-CNChinese (China)OCRL1 基因
Synonyms: INPP5F;LOCR;NPHL2;OCRL;oculocerebrorenal syndrome of Lowe;Lowe 前脑硬化综合征;眼脑肾综合征;眼腦腎症候群;Lowe 氏症候群;前脑硬化综合症;眼-脑-肾综合征;Lowe-Terry-Machlachan 综合征;oculocerebrorenal syndrome;Lowe 综合征;X连锁隐性遗传病;基因位于Ｘ染色体长臂（Xq25）;Charles Upton Lowe
et-EEEstonian (Estonia)OCRL1 geen
es-ESSpanish (Spain)Gen OCRL1
it-ITItalian (Italy)OCRL1, gene
Synonyms: Gene OCRL1,OCRL1
tr-TRTurkish (Turkey)OCRL1 geni
ru-RURussian (Russian Federation)OCRL1 ген
nl-NLDutch (Netherlands)OCRL1-gen
Synonyms: OCRL1 gen
fr-FRFrench (France)OCRL1 gène
pl-PLPolish (Poland)OCRL1 gen
Synonyms: Gen OCRL1
el-GRGreek (Greece)Γονίδιο OCRL1
Synonyms: Γονίδιο OCRL1