Summary
Performance
Immunogen
Application
Background
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.,
Research Area
Regulation of Actin Dynamics; AMPK
