| Entrez gene ID | | 2245 |
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| Official gene symbol | | FGD1 |
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| Full name | | FYVE, RhoGEF and PH domain containing 1 |
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| Aliases | | ,AAS,FGDY,ZFYVE3, |
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| Gene summary | | FGD1 contains Dbl (DH) and pleckstrin (PH) homology domains. It can bind specifically to the Rho family GTPase Cdc42Hs and 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. FGD1 has an essential role in embryonic development, and FGD1 gene mutations result in the human developmental disorder, Aarskog-Scott syndrome. [provided by RefSeq] |
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| Location | | Chromosome: X Locus: Xp11.21 |
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| Gene position | | 54522599 - 54471887 Map Viewer |
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| Gene orientation | | minus |
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| Gene size | | 50713 bp |
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| Gene sequence |
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| OMIM ID | | 300546 |
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