基因注释：GJA8

官方名称：gap junction protein alpha 8

功能摘要：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].

• U2af1 综合评分: 0.150 · 证据 1 条

该基因暂无关联疾病记录