ARHGEF10 Rabbit Polyclonal Antibody

This gene encodes a Rho guanine nucleotide exchange factor (GEF) . Rho GEFs regulate the activity of small Rho GTPases by stimulating the exchange of guanine diphosphate (GDP) for guanine triphosphate (GTP) and may play a role in neural morphogenesis. Mutations in this gene are associated with slowed nerve conduction velocity (SNCV) . Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015], disease:Defects in ARHGEF10 are the cause of slowed nerve conduction velocity (SNCV) [MIM:608236]. Affected individuals present a reduction in nerve conduction velocities without any clinical signs of peripheral or central nervous system dysfunction. SNCV inheritance is autosomal dominant., function:May play a role in developmental myelination of peripheral nerves., sequence caution:Cloning artifact., sequence caution:Translated as Lys., similarity:Contains 1 DH (DBL-homology) domain.