FGD1 gene

The FGD1 gene (FGD1 stands for: FYVE, RhoGEF And PH Domain Containing 1) is a protein-coding gene located on chromosome Xp11.22. An important paralog of this gene is FGD4.

The FGD1 gene encodes a protein that contains Dbl (DH) and pleckstrin (PH) homology domains and resembles the Rho family of small GTP-binding proteins. The encoded protein binds specifically to the Rho-family GTPase Cdc42Hs and can stimulate GDP-GTP exchange of the isoprenylated form of Cdc42Hs. It also stimulates the mitogen-activated protein kinase cascade, which leads to activation of the c-Jun kinase SAPK/JNK1.

Diseases associated with FGD1 include Aarskog-Scott syndrome and Aarskog syndrome.

1. Aarskog D (1970) A familial syndrome of short stature associated with facial dysplasia and genital anomalies. The Journal of Pediatrics 77:856-861.
2. Closs LQ et al. (2012) Aarskog-scott syndrome: a review and case report. Int J Clin Pediatr Dent 5:209-212
3. Li S et al. (2024) FGD1-related Aarskog-Scott syndrome: Identification of four novel variations and a literature review of clinical and molecular aspects. Eur J Pediatr 183:2257-2272
4. Parıltay D et al. (2016) The human gene mutation database: towards A comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. Human Genetics 136:665-677.