RCN2 - reticulocalbin 2 Gene

中文名称：网状局部蛋白 2

种属: Homo sapiens

同用名: E6BP; ERC55; ERC-55; TCBP49

关于 RCN2

功能概要

该基因编码的蛋白质是一种位于内质网腔内的钙结合蛋白。该蛋白质包含六个与高亲和力 CA (+2) 结合基序 EF 手相似的保守区域。该基因映射到与 4 型 Bardet-Biedl 综合征相同的区域，表明该基因在该疾病中可能具有致病作用。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供，2012 年 11 月]

The protein encoded by this gene is a calcium-binding protein located in the lumen of the ER. The protein contains six conserved regions with similarity to a high affinity CA(+2)-binding motif, the EF-hand. This gene maps to the same region as type 4 Bardet-Biedl syndrome, suggesting a possible causative role for this gene in the disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]