GJB3
| Connexin 31 | ||
|---|---|---|
| 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
|
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.