Version 2.78

Description

The GBA gene (glucosidase, beta, acid) [HGNC Gene ID:4177] is located on chromosome 1q21. This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010] [NCBI Gene ID:2629] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

Type Source Reference
Webcontent Online 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 Display Name
GBA gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2004-04-05
Construct for LOINC Short Name
GBA gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP33319-2
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP33319-2

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) GBA 基因
Synonyms: Beta 葡糖苷酶基因;Gaucher 氏病;Gaucher 病;Gauchers 氏病;Gauchers 病;GBA1 (LL);GC (SP);GLUC (LL);β葡糖苷酶基因;戈谢氏病;戈谢病;葡糖脑苷脂酶基因;高雪氏症;高雪病;高雪症
et-EE Estonian (Estonia) GBA geen
es-ES Spanish (Spain) Gen GBA
it-IT Italian (Italy) GBA, gene
Synonyms: Gene GBA
tr-TR Turkish (Turkey) GBA geni
ru-RU Russian (Russian Federation) GBA ген
nl-NL Dutch (Netherlands) GBA-gen
Synonyms: GBA gen