View GJB1 gene homepage

General information
Gene symbol GJB1
Gene name gap junction protein beta 1
Chromosome X
Chromosomal band q13.1
Imprinted Not imprinted
Genomic reference LRG_245
Transcript reference NM_000166.5, NM_001097642.2, XM_011530907.1
Associated with diseases CMT2A1
Citation reference(s) -
Curators (1) Panayiotis Laouris
Total number of public variants reported 0
Unique public DNA variants reported 0
Individuals with public variants 0
Hidden variants 0
Date created September 20, 2017
Date last updated September 20, 2017
Version GJB1:170920

Links to other resources
HGNC 4283
Entrez Gene 2705
PubMed articles GJB1
OMIM - Gene 304040
OMIM - Diseases CMT2A1 (Charcot-Marie-Tooth (CMT) disease - demyelinating)

Active transcripts




NCBI ID     

NCBI Protein ID     

00000321 X gap junction protein, beta 1, 32kDa, transcript variant 2 NM_000166.5 NP_000157.1 0
00000322 X gap junction protein, beta 1, 32kDa, transcript variant 1 NM_001097642.2 NP_001091111.1 0
00000323 X gap junction protein, beta 1, 32kDa, transcript variant X1 XM_011530907.1 XP_011529209.1 0

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