FGD1 wt Allele

Preferred Label : FGD1 wt Allele;

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

NCIt 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).;

GenBank Accession Number : U11690;

Details

Origin ID

C201159;

OMIM relation
- Fyve, rhogef, and ph domain-containing protein 1 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Xp11.22 [NCIt concept]
gene_is_element_in_pathway
- Actin Cytoskeleton Regulation Pathway [NCIt concept]
gene_plays_role_in_process
- Cytoskeletal Modeling [NCIt concept]
- Regulation of Cell Shape [NCIt concept]
- Signal Transduction [NCIt concept]

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