ARHG6 Polyclonal Antibody

disease:Defects in ARHGEF6 are the cause of mental retardation X-linked type 46 (MRX46) [MIM:300436]. Mental retardation is a mental disorder characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs.,function:Acts as a RAC1 guanine nucleotide exchange factor (GEF).,similarity:Contains 1 CH (calponin-homology) domain.,similarity:Contains 1 DH (DBL-homology) domain.,similarity:Contains 1 PH domain.,similarity:Contains 1 SH3 domain.,subunit:Interacts with PAK kinases through the SH3 domain. Interacts with GIT1. Component of cytoplasmic complexes, which also contain PXN, GIT1 and PAK1.,tissue specificity:Ubiquitous.,