菜单 基因医生

这个基因编码一种在肌动蛋白细胞骨架的组织中起重要作用的蛋白质编码蛋白与wiskott-aldrich综合征蛋白结合，wiskott-aldrich综合征是一种x连锁的隐性遗传疾病。这两种蛋白质之间相互作用的损害可能是导致这种疾病的原因之一两个编码相同蛋白质的转录变体已经被鉴定为该基因[由RefSeq提供，2008年7月]
This gene encodes a protein that plays an important role in the organization of the actin cytoskeleton. The encoded protein binds to a region of Wiskott-Aldrich syndrome protein that is frequently mutated in Wiskott-Aldrich syndrome, an X-linked recessive disorder. Impairment of the interaction between these two proteins may contribute to the disease. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]