Gene Symbol | FGD1 |
Entrez Gene ID | 2245 |
Full Name | FYVE, RhoGEF and PH domain containing 1 |
Synonyms | AAS,FGDY,MRXS16,ZFYVE3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a protein that contains Dbl (DH) and pleckstrin (PH) homology domains and is similar to the Rho family of small GTP-binding proteins. The encoded protein specifically binds to the Rho family GTPase Cdc42Hs and can stimulate the GDP-GTP exchange of the isoprenylated form of Cdc42Hs. It also stimulates the mitogen activated protein kinase cascade leading to c-Jun kinase SAPK/JNK1 activation. Defects in this gene are the cause of the faciogenital dysplasia in Aarskog-Scott syndrome and a syndromatic form of X-linked cognitive disability. [provided by RefSeq, Jul 2017]. |
Disorder MIM: | |
Disorder Html: | Aarskog-Scott syndrome, 305400 (3); Mental retardation, X-linked syndromic 16, 305400 (3) |