Log In

Description

The GPR143 gene (G protein-coupled receptor 143) [HGNC Gene ID:20145] is located on chromosome Xp22.3. This gene encodes a protein that binds to heterotrimeric G proteins and is targeted to melanosomes in pigment cells. This protein is thought to be involved in intracellular signal transduction mechanisms. Mutations in this gene cause ocular albinism type 1, also referred to as Nettleship-Falls type ocular albinism, a severe visual disorder. A related pseudogene has been identified on chromosome Y. [provided by RefSeq, Dec 2009] [NCBI Gene ID:4935] 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
GPR143 gene
Part Display Name
GPR143 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2007-04-19
Construct for LOINC Short Name
GPR143 gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP63484-7
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP63484-7

Language Variants Get Info

TagLanguageTranslation
zh-CNChinese (China)GPR143 基因
Synonyms: G 蛋白耦联受体 143;G 蛋白耦联型受体 143;眼白化病 1 型（Ocular albinism type 1，OA1）;眼白化病 1 型蛋白基因;眼睛白化病 1 型蛋白基因
et-EEEstonian (Estonia)GPR143 geen
es-ESSpanish (Spain)Gen GPR143
it-ITItalian (Italy)GPR143, gene
Synonyms: Gene GPR143
tr-TRTurkish (Turkey)GPR143 geni
ru-RURussian (Russian Federation)GPR143 ген
nl-NLDutch (Netherlands)GPR143-gen
Synonyms: GPR143 gen
fr-FRFrench (France)GPR143 gène
pl-PLPolish (Poland)GPR143 gen
Synonyms: Gen GPR143
el-GRGreek (Greece)Γονίδιο GPR143
Synonyms: Γονίδιο GPR143