FGD4

Name

FYVE, RhoGEF and PH domain containing 4

Type

protein-coding

Position

32,399,558–32,646,050 (+)

Aliases

CMT4H, FRABP, ZFYVE6

Ensembl

ENSG00000139132

RefSeq RNA

NM_001304480.1, NM_001304481.2, NM_001304483.2, NM_001304484.2, NM_001330373.2

RefSeq protein

NP_001291409.1, NP_001291410.1, NP_001291412.1, NP_001291413.1, NP_001317302.1

This gene encodes a protein that is involved in the regulation of the actin cytoskeleton and cell shape. This protein contains an actin filament-binding domain, which together with its Dbl homology domain and one of its pleckstrin homology domains, can form microspikes. This protein can activate MAPK8 independently of the actin filament-binding domain, and it is also involved in the activation of CDC42 via the exchange of bound GDP for free GTP. The activation of CDC42 also enables this protein to play a role in mediating the cellular invasion of Cryptosporidium parvum, an intracellular parasite that infects the gastrointestinal tract. Mutations in this gene can cause Charcot-Marie-Tooth disease type 4H (CMT4H), a disorder of the peripheral nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015].