| ncRNA Symbol: | FGD1 |
| Full Name: | FYVE, RhoGEF and PH domain containing 1 |
| Category: | mRNA |
| Synonyms: | AAS|FGDY|MRXS16|ZFYVE3 |
| Chromosome: | chrX |
| Strand: | - |
| Coordinate: | | Start Site(bp): | 54445454 | End Site(bp): | 54496166 |
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| 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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