The GJB6 gene homepage
| General information |
| Gene symbol |
GJB6 |
| Gene name |
gap junction protein, beta 6, 30kDa |
| Chromosome |
13 |
| Chromosomal band |
q12 |
| Imprinted |
- |
| Genomic reference |
NG_008323.1 |
| Transcript reference |
NM_006783.4 |
| Associated with diseases |
WD |
| Citation reference(s) |
- |
| Refseq URL |
Coding DNA reference sequence |
| Curators (0) |
- |
| Total number of public variants reported |
0 |
| Unique public DNA variants reported |
0 |
| Individuals with public variants |
0 |
| Hidden variants |
- |
| Notes |
Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by
two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four transmembrane
segments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane segments, and the N-
and C-terminus both being in the cytoplasm. The specificity of the gap junction is determined by which connexin
proteins comprise the hemichannel. In the past, connexin protein names were based on their molecular weight, however
the new nomenclature uses sequential numbers based on which form (alpha or beta) of the gap junction is present. This
gene encodes one of the connexin proteins. Mutations in this gene have been found in some forms of deafness and in
some families with hidrotic ectodermal dysplasia. |
| Date created |
August 07, 2013 |
Active transcripts
| Copyright & disclaimer |
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized 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 © 2013-2024. 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 from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), 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. |
|
|
