Gene: FGD4

Alternate names for this Gene: CMT4H|FRABP|ZFYVE6

Gene Summary: 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.

Gene is located in Chromosome: 12

Location in Chromosome : 12p11.21

Description of this Gene: FYVE, RhoGEF and PH domain containing 4

Type of Gene: protein-coding

rs63749871 in FGD4 gene and Charcot-Marie-Tooth disease type 4 PMID 17564959 2007 Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H.

PMID 17564972 2007 Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4.

rs5006548 in FGD4 gene and Hypertensive disease PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

rs61927245 in FGD4 gene and Platelet mean volume determination (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs112595860 in FGD4 gene and Suicide attempt PMID 30116032 2018 Genetics of suicide attempts in individuals with and without mental disorders: a population-based genome-wide association study.

rs10771962 in FGD4 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.