Version 2.78

Description

The GJB1 gene (gap junction protein, beta 1, 32kDa) [HGNC Gene ID:4283] is located on chromosome Xq13.1. This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008] [NCBI Gene ID:2705] 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
GJB1 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2003-10-23
Construct for LOINC Short Name
GJB1 gene

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

CodeSystem lookup
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Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) GJB1 基因
Synonyms: Charcot-Marie-Tooth 神经病, X 染色体连锁;Charcot-Marie-Tooth 神经病, X-连锁;CMTX;CMTX1;Connexin 32;Cx32;缝管连接蛋白 32;腓骨肌萎缩症, X 染色体连锁;腓骨肌萎缩症, X-连锁;连接蛋白 32;遗传性运动感觉神经病;间隙连接蛋白 32
et-EE Estonian (Estonia) GJB1 geen
es-ES Spanish (Spain) Gen GJB1
it-IT Italian (Italy) GJB1, gene
Synonyms: Gene GJB1
tr-TR Turkish (Turkey) GJB1 geni
ru-RU Russian (Russian Federation) GJB1 ген
nl-NL Dutch (Netherlands) GJB1-gen
Synonyms: GJB1 gen