LRRC8A - leucine rich repeat containing 8 VRAC subunit A Gene

中文名称：含富含亮氨酸重复序列的 8 VRAC A 亚基

种属: Homo sapiens

同用名: AGM5; LRRC8; SWELL1; HsLRRC8A

关于 LRRC8A

功能概要

该基因编码的蛋白质属于富含亮氨酸的重复蛋白家族，参与多种生物过程，包括细胞粘附、细胞运输和激素-受体相互作用。该家族成员是一种推定的四次跨膜蛋白，在 B 细胞发育中发挥作用。该基因的缺陷导致常染色体显性非布鲁顿型丙种球蛋白血症，这是一种由 B 细胞成熟缺陷引起的免疫缺陷病。已经为该基因鉴定了编码相同蛋白质的多个选择性剪接的转录物变体。[RefSeq 提供，2008 年 7 月]

This gene encodes a protein belonging to the leucine-rich repeat family of proteins, which are involved in diverse biological processes, including cell adhesion, cellular trafficking, and hormone-receptor interactions. This family member is a putative four-pass transmembrane protein that plays a role in B cell development. Defects in this gene cause autosomal dominant non-Bruton type agammaglobulinemia, an immunodeficiency disease resulting from defects in B cell maturation. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]