SEMA7A - semaphorin 7A (John Milton Hagen blood group) Gene

中文名称：信号蛋白 7A (约翰·米尔顿·哈根血型)

种属: Homo sapiens

同用名: JMH; CD108; SEMAL; CDw108; PFIC11; SEMAK1; H-Sema-L; H-SEMA-K1

关于 SEMA7A

功能概要

该基因编码信号素蛋白家族的成员。编码的前原蛋白经过蛋白水解处理，生成成熟的糖基磷脂酰肌醇 (GPI) 锚定膜糖蛋白。编码的蛋白质存在于活化的淋巴细胞和红细胞上，可能参与免疫调节和神经元过程。编码的蛋白质携带 John Milton Hagen (JMH) 血型抗原。该基因的突变可能与骨矿物质密度 (BMD) 降低有关。可变剪接导致多个转录本变体，其中至少一个编码一种经过蛋白水解处理的亚型。[RefSeq 提供，2016 年 2 月]

This gene encodes a member of the semaphorin family of proteins. The encoded preproprotein is proteolytically processed to generate the mature glycosylphosphatidylinositol (GPI)-anchored membrane glycoprotein. The encoded protein is found on activated lymphocytes and erythrocytes and may be involved in immunomodulatory and neuronal processes. The encoded protein carries the John Milton Hagen (JMH) blood group antigens. Mutations in this gene may be associated with reduced bone mineral density (BMD). Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]