靶标：
CIB2
产品别名：
DFNB48； KIP2； USH1J； CIB2； calcium and integrin binding family member 2； calcium and integrin binding family member 2； calcium and integrin-binding family member 2； DNA-dependent protein kinase catalytic subunit-interacting protein 2； 钙和整合素结合蛋白2；
背景信息：
The protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. The encoded protein is a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunits (DNA-PKcs), and it is involved in photoreceptor cell maintenance. Mutations in this gene cause deafness, autosomal recessive, 48 (DFNB48), and also Usher syndrome 1J (USH1J). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014],
