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 |
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