Recombinant Human FYVE, RhoGEF and PH domain-containing protein 4 (FGD4)

1. FGD4 c.2044-236 A-allele carriers had an increased risk of paclitaxel dose reduction (HR per A-allele=1.38, P=0.036) when adjusted for total cumulative paclitaxel dose PMID: 27736846
2. identified two different pairs of novel compound heterozygous mutations in the FGD4 gene from nonconsanguineous Korean Charcot-Marie-Tooth disease type 4H families PMID: 26400421
3. Our results suggest that FGD4 should be screened in other early-onset CMT subtypes, regardless of the severity of the phenotype, and particularly in patients of consanguineous descent. PMID: 23550889
4. A single nucleotide polymorphism in FGD4 was associated with the onset of paclitaxel-induced sensory peripheral neuropathy. PMID: 22843789
5. LMP1, through its transmembrane domains, directly bound FGD4 and enhanced FGD4 activity toward Cdc42, leading to actin cytoskeleton rearrangement and increased motility of NPC cells. PMID: 22589722
6. we have identified two novel missense mutations in FGD4 in two patients affected by autosomal recessive demyelinating Charcot-Marie-Tooth disease PMID: 22734899
7. susceptibility genes associated with alcohol drinking PMID: 22295116
8. role of frabin, a guanine nucleotide exchange factor specific for Cdc42, in the activation of Cdc42 during Cryptosporidium parvum infection of biliary epithelial cells PMID: 15133042
9. The identification of mutations in FGD4, encoding FGD4 or FRABIN (FGD1-related F-actin binding protein), in families with Charcot-Marie-Tooth type 4H. PMID: 17564959
10. We report that disruption of frabin/FGD4, a GEF for the Rho GTPase cell-division cycle 42 (Cdc42), causes peripheral nerve demyelination in patients with autosomal recessive Charcot-Marie-Tooth (CMT) neuropathy. PMID: 17564972
11. A novel homozygous Frabin (FGD4) nonsense mutation p.R275X is identified in a family with Charcot-Marie Tooth disease (CMT4H) from Northern Ireland. PMID: 19221294
12. Genetic heterogeneity of FGD4 demonstrates that CMT4H has variable functional impairment and suggests that frabin plays a crucial role during myelin formation. PMID: 19332693
13. differentialy expressed in dendritic cells upon stimulation of with with the major house dust mite allergen Der p 1 PMID: 19494521

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HGNC: 19125

OMIM: 609311

KEGG: hsa:121512

STRING: 9606.ENSP00000394487

UniGene: Hs.117835