LAMA2基因突变与药物因子介绍
层粘连蛋白是一种细胞外蛋白，是基底膜的主要成分它被认为通过与其他细胞外基质成分相互作用，在胚胎发育过程中介导细胞附着、迁移和组织到组织中它由α、β和γ三个亚单位组成，它们通过二硫键相互结合形成一个十字形分子这个基因编码α2链，它构成层粘连蛋白2（merosin）和层粘连蛋白4（s-merosin）的一个亚单位该基因的突变被认为是导致先天性肌营养不良的原因。已经发现了两个编码不同蛋白质的转录变体[由RefSeq提供，2008年7月]
Laminin, an extracellular protein, is a major component of the basement membrane. It is thought to mediate the attachment, migration, and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. It is composed of three subunits, alpha, beta, and gamma, which are bound to each other by disulfide bonds into a cross-shaped molecule. This gene encodes the alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin). Mutations in this gene have been identified as the cause of congenital merosin-deficient muscular dystrophy. Two transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Jul 2008]
