GJB3
Connexin 31 | ||
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other names |
Gap Junction Beta 3 Protein |
|
Properties of human protein | ||
Mass / length primary structure | 30,818 daltons / 270 amino acids | |
Identifier | ||
Gene names | GJB3 EKV, CX31, DFNA2, DFNA2B | |
External IDs | ||
Orthologue | ||
human | House mouse | |
Entrez | 2707 | 14620 |
Ensemble | ENSG00000188910 | ENSMUSG00000042367 |
UniProt | O75712 | P28231 |
Refseq (mRNA) | NM_001005752 | NM_001160012 |
Refseq (protein) | NP_001005752 | NP_001153484 |
Gene locus | Chr 1: 34.78 - 34.79 Mb | Chr 4: 127.33 - 127.33 Mb |
PubMed search | 2707 |
14620
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Connexin 31 is a protein encoded by the GJB3 gene . It belongs to the family of connexins , which - together to form the hexamer - form the connexons from which the gap junctions (cell connections) emerge. Mutations in this gene can cause deafness or erythrokeratodermia variabilis , a skin disease. Connexin 31 interacts with Consortin .
The protein structure is typical of that of connexins and contains, among other things, a collection of three cysteine residues in each extracellular loop.