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- Table of Contents
Facts about Gap junction beta-6 protein.
Human | |
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Gene Name: | GJB6 |
Uniprot: | O95452 |
Entrez: | 10804 |
Belongs to: |
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connexin family |
Connexin 30; connexin-30; CX30; CX30gap junction protein, beta 6; DFNA3B; DFNB1B; ectodermal dysplasia 2, hidrotic (Clouston syndrome); ED2; EDH; gap junction beta-6 protein; gap junction protein, beta 6 (connexin 30); gap junction protein, beta 6, 30kDa; GJB6; HEDDFNA3
Mass (kDA):
30.387 kDA
Human | |
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Location: | 13q12.11 |
Sequence: | 13; NC_000013.11 (20221962..20232395, complement) |
Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.
PMID: 10471490 by Grifa A., et al. Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.
PMID: 10610709 by Kelley P.M., et al. Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12.