FGD1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human FGD1 wild-type allele is located in the vicinity of Xp11.22 and is approximately 51 kb in length. This allele, which encodes FYVE, RhoGEF and PH domain-containing protein 1, is involved in remodeling the cytoskeleton, modulation of cell shape and GTP exchange for Rho and Rac family proteins. Mutation of the gene is associated with both Aarskog-Scott syndrome and X-linked syndromic intellectual developmental disorder 16 (Aarskog-Scott syndrome with attention deficit-hyperactivity disorder).

**Synonyms:** - AAS - FGDY - FYVE, RhoGEF and PH Domain Containing 1 wt Allele - Faciogenital Dysplasia (Aarskog-Scott Syndrome) Gene - MRXS16 - ZFYVE3