ARHGEF10

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]

Full Name

Rho Guanine Nucleotide Exchange Factor 10

Function

May play a role in developmental myelination of peripheral nerves.

Biological Process

Actin cytoskeleton organization Source: GO_Central
Activation of GTPase activity Source: BHF-UCL
Centrosome duplication Source: BHF-UCL
Mitotic spindle assembly Source: BHF-UCL
Myelination in peripheral nervous system Source: BHF-UCL
Positive regulation of stress fiber assembly Source: BHF-UCL
Regulation of Rho protein signal transduction Source: InterPro

Cellular Location

Centrosome; Cytosol

Involvement in disease

Slowed nerve conduction velocity (SNCV): 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.

PTM

Methylated at Gln-1338 by N6AMT1.