| Protein Name | FYVE, RhoGEF and PH domain containing 1 |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 2245 |
| Gene Symbol | FGD1 |
| UniProt | P98174 (FGD1_HUMAN), A0A024R9Y5 (A0A024R9Y5_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
69
Total Number of Articles : 52 |
Description |
FYVE, RhoGEF and PH domain containing 1 |
| Gene 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] |
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| Properties | |