Aliases: RP1-112K5.1, AAS, FGDY, MRXS16, ZFYVE3
Chromosome No: X
Chromosome Band: Xp11.22
Genetic Category: Rare Single Gene variant-Syndromic
ASD Reports: 6
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 8
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
A rare mutation in the FGD1 gene has been identified with ADHD (Orrico et al., 2005). In addition, this gene has been associated with syndromic autism, where a subpopulation of individuals with a given syndrome develop autism. In particular, rare mutations in the FGD1 gene have been identified with Aarskog-Scott syndrome (AAS) (Kaname et al., 2006).
Molecular Function
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 MAP kinase cascade leading to c-Jun kinase SAPK/JNK1 activation. Defects in this gene are the cause of faciogenital dysplasia and X-linked mental retardation, syndromatic 16.
External Links
