這個基因編碼一種在肌動蛋白細胞骨架的組織中起重要作用的蛋白質編碼蛋白與wiskott-aldrich綜合征蛋白結合,wiskott-aldrich綜合征是一種x連鎖的隱性遺傳疾病。這兩種蛋白質之間相互作用的損害可能是導致這種疾病的原因之一兩個編碼相同蛋白質的轉錄變體已經被鑒定為該基因。
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.