Entrez gene ID | | 127534 |
Official gene symbol | | GJB4 |
Full name | | gap junction protein, beta 4, 30.3kDa |
Aliases | | ,CX30.3,EKV,MGC21116, |
Gene summary | | This gene encodes a transmembrane connexin protein that is a component of gap junctions. Mutations in this gene have been associated with erythrokeratodermia variabilis, progressive symmetric erythrokeratoderma and hearing impairment. [provided by RefSeq] |
Location | | Chromosome: 1 Locus: 1p34.3 |
Gene position | | 35225342 - 35229325 Map Viewer |
Gene orientation | | plus |
Gene size | | 3984 bp |
Gene sequence |
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OMIM ID | | 605425 |
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