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


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
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


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2017. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.