基因名:
ARHGAP39
产品别名:
CrGAP; Vilse; ARHGAP39; Rho GTPase activating protein 39; Rho GTPase activating protein 39; rho GTPase-activating protein 39; RhoGAP93B homolog; crossGAP homolog; ARHGAP39蛋白;
背景信息:
GTPase-activating proteins (GAPs) accelerate the intrinsic rate of GTP hydrolysis of Ras-related proteins, resulting in down regulation of their active form. KIAA1688, also known as ARHGAP39 (Rho GTPase activating protein 39), CrGAP or Vilse, is a 1,083 amino acid nuclear protein that contains one MyTH4 domain, one Rho-GAP domain and two WW domains. KIAA1688 is encoded by a gene located on human chromosome 8, which consists of nearly 146 million bases and encodes approximately 800 genes. Chromosome 8 is associated with a variety of diseases and malignancies. Schizophrenia, bipolar disorder, Trisomy 8, Pfeiffer syndrome, congenital hypothyroidism, Waardenburg syndrome and some leukemias and lymphomas are thought to occur as a result of defects in specific genes that maps to chromosome 8.