Version 2.77

Description

The GJB2 gene (gap junction protein, beta 2, 26kDa) [HGNC Gene ID:4284] is located on chromosome 13q11-q12. This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. 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 are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq, Oct 2008] [NCBI Gene ID:2706] 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
GJB2 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2004-02-11
Construct for LOINC Short Name
GJB2 gene

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Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) GJB2 基因
Synonyms: Connexin 26;Cx26;DFNA3;DFNB1;HID;KID;NSRD1;PPK;缝管连接蛋白 26;缝隙连接 Beta-2 蛋白基因;耳聋, 常染色体显性 1;耳聋, 常染色体显性 3;连接蛋白 26;间隙连接蛋白 26;间隙链接β-2 蛋白基因
et-EE Estonian (Estonia) GJB2 geen
es-ES Spanish (Spain) Gen GJB2
it-IT Italian (Italy) GJB2, gene
Synonyms: Gene GJB2
tr-TR Turkish (Turkey) GJB2 geni
ru-RU Russian (Russian Federation) GJB2 ген
nl-NL Dutch (Netherlands) GJB2-gen
Synonyms: GJB2 gen