SEC23IP - SEC23 interacting protein Gene

中文名称：SEC23 相互作用蛋白

种属: Homo sapiens

同用名: P125; P125A; iPLA1A; MSTP053; iPLA1beta

关于 SEC23IP

功能概要

该基因编码磷脂酸偏好磷脂酶 A1 家族的成员。编码的蛋白质定位于内质网出口位点，作为多聚外壳蛋白 II 复合物的一部分在内质网高尔基体转运中起着关键作用。青蛙中的直系同源基因是正常神经嵴细胞发育所必需的，表明该基因可能在 Waardenburg 综合征神经嵴缺陷中发挥作用。已观察到该基因的可变剪接转录物变体。[RefSeq 提供，2011 年 2 月]

This gene encodes a member of the phosphatidic acid preferring-phospholipase A1 family. The encoded protein is localized to endoplasmic reticulum exit sites and plays a critical role in ER-Golgi transport as part of the multimeric coat protein II complex. An orthologous gene in frogs is required for normal neural crest cell development, suggesting that this gene may play a role in Waardenburg syndrome neural crest defects. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]