Gene Symbol | GJA8 |
Entrez Gene ID | 2703 |
Full Name | gap junction protein alpha 8 |
Synonyms | CAE,CAE1,CTRCT1,CX50,CZP1,MP70 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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, Dec 2009]. |
Disorder MIM: | |
Disorder Html: | Cataract 1, multiple types, 116200 (3) |