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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| FGD1-20-RE | 20 (40 μL) | 200 μL |  |
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| FGD1-20-OR | 20 (40 μL) | 200 μL |  |
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| FGD1-20-GO | 20 (40 μL) | 200 μL |  |
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| FGD1-20-GR | 20 (40 μL) | 200 μL |  |
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| FGD1-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : FGD1
Gene Name : FYVE, RhoGEF and PH domain containing 1
Chromosome : CHR X: 544,961,65-544,454,53
Locus : Xp11.22
Alt. Genes : BCAP31
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