DERL1 - derlin 1 Gene

中文名称：德林 1

种属: Homo sapiens

同用名: DER1; DER-1; derlin-1

关于 DERL1

功能概要

由该基因编码的蛋白质是 derlin 家族的成员。该家族的成员参与 ER 相关的降解反应并将错误折叠或未折叠的蛋白质从 ER 腔逆转录到胞质溶胶以进行蛋白酶体降解。这种蛋白质识别 ER 中的底物，并在复合物中起作用，将其逆转录穿过 ER 膜进入胞质溶胶。这种蛋白质可能会选择囊性纤维化跨膜电导调节蛋白 (CFTR) 进行降解以及阿尔茨海默病中的未折叠蛋白质。可变剪接导致编码不同蛋白质亚型的多个转录变体。[RefSeq 提供，2012 年 8 月]

The protein encoded by this gene is a member of the derlin family. Members of this family participate in the ER-associated degradation response and retrotranslocate misfolded or unfolded proteins from the ER lumen to the cytosol for proteasomal degradation. This protein recognizes substrate in the ER and works in a complex to retrotranslocate it across the ER membrane into the cytosol. This protein may select cystic fibrosis transmembrane conductance regulator protein (CFTR) for degradation as well as unfolded proteins in Alzheimer's disease. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]