ARHGAP11A Polyclonal Antibody

GTPase-activating proteins (GAPs) accelerate the intrinsic rate of GTP hydrolysis of Ras-related proteins, resulting in downregulation of their active form. ARHGAP11A (Rho GTPase activating protein 11A), also known as KIAA0013 or MGC70740, is a 1, 023 amino acid protein that contains one helical Rho-GAP domain and is encoded by a gene located on human chromosome 15. Defects in the gene encoding ARHGAP11A may cause mental retardation. Human chromosome 15 encodes over 700 genes and comprises nearly 3% of the human genome. Angelman and Prader-Willi syndromes are associated with loss of function or deletion of genes in the 15q11-q13 region. In the case of Angelman syndrome, this loss is due to inactivity of the maternal 15q11-q13 encoded UBE3A gene in the brain by either chromosomal deletion or mutation. In cases of Prader-Willi syndrome, there is a partial or complete deletion of this region from the paternal copy of chromosome 15. Tay-Sachs disease is a lethal disorder associated with mutations of the HEXA gene, which is encoded by chromosome 15. Marfan syndrome is associated with chromosome 15 through the FBN1 gene.

1 mg/ml

113866

-20°C for one year