FYVE, RhoGEF, and PH Domain-Containing Protein 1

Alternative Names

  • FGD1

Associated Diseases

Aarskog-Scott Syndrome
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OMIM Number

300546

NCBI Gene ID

2245

Uniprot ID

P98174

Length

50,781 bases

No. of Exons

18

No. of isoforms

1

Protein Name

FYVE, RhoGEF and PH Domain-Containing Protein 1

Molecular Mass

106561 Da

Amino Acid Count

961

Genomic Location

chrX:54,445,453-54,496,233

Gene Map Locus
Xp11.22

Description

The FGD1 gene encodes a guanine nucleotide exchange factor (GEF) belonging to the DBL family of proteins. The FGD1 protein localizes preferentially to the trans-Golgi network of mammalian cells and activates Rho GTPase CDC42 by mediating the exchange of CDC42-bound GDP for GTP. FGD1 regulates secretory membrane trafficking and extracellular matrix remodeling, playing an important role in skeletal development and morphogenesis.

The protein is considered essential for normal embryogenesis in mammals. Mutations in the gene have been associated with Aarskog-Scott Syndrome (AAS), a condition characterized by facial, genital and skeletal anomalies. 

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_004463.2:c.53delUnited Arab EmiratesNC_000023.11:g.54495382delLikely Pathogenic, PathogenicAarskog-Scott SyndromeNG_008054.1:g.5787del; NM_004463.2:c.53del; NP_004454.2:p.Pro18ArgfsTer106
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