Entrez gene ID | | 2703 |
Official gene symbol | | GJA8 |
Full name | | gap junction protein, alpha 8, 50kDa |
Aliases | | ,CAE,CAE1,CX50,CZP1,MP70, |
Gene summary | | This gene encodes a transmembrane connexin protein that is necessary for lens growth and maturation of lens fiber cells. The encoded protein is a component of gap junction channels and functions in a calcium and pH-dependent manner. Mutations in this gene have been associated with zonular pulverulent cataracts, nuclear progressive cataracts, and cataract-microcornea syndrome. [provided by RefSeq] |
Location | | Chromosome: 1 Locus: 1q21.1 |
Gene position | | 147374946 - 147381396 Map Viewer |
Gene orientation | | plus |
Gene size | | 6451 bp |
Gene sequence |
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OMIM ID | | 600897 |
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