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Normal Function
The DCAF17 gene provides instructions for making a protein whose function is unknown. The gene is active (expressed) in several organs and tissues in the body, including the brain, skin, and liver. Within cells, the protein produced from this gene is found in the nucleolus, which is a small region inside the nucleus where cell structures called ribosomes are assembled. It is not clear whether the DCAF17 protein plays a role in this process.
Health Conditions Related to Genetic Changes
Woodhouse-Sakati syndrome
At least 11 DCAF17 gene mutations have been identified in people with Woodhouse-Sakati syndrome, a disorder that affects the body's network of hormone-producing glands (the endocrine system) and the nervous system. This condition is characterized by delayed or absent puberty, hair loss, abnormal movements, hearing loss, and intellectual disability.
Most of the DCAF17 gene mutations that cause Woodhouse-Sakati syndrome result in a protein that is abnormally short and breaks down quickly or whose usual function is impaired. Loss of DCAF17 protein function likely accounts for the features of Woodhouse-Sakati syndrome, although it is unclear how a shortage of this protein leads to hormone abnormalities and the other signs and symptoms of this condition.
More About This Health ConditionOther Names for This Gene
- C2orf37
- FLJ13096
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Agopiantz M, Corbonnois P, Sorlin A, Bonnet C, Klein M, Hubert N, Pascal-Vigneron V, Jonveaux P, Cuny T, Leheup B, Weryha G. Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature. J Endocrinol Invest. 2014 Jan;37(1):1-7. doi: 10.1007/s40618-013-0001-5. Epub 2014 Jan 8. Citation on PubMed
- Alazami AM, Al-Saif A, Al-Semari A, Bohlega S, Zlitni S, Alzahrani F, Bavi P, Kaya N, Colak D, Khalak H, Baltus A, Peterlin B, Danda S, Bhatia KP, Schneider SA, Sakati N, Walsh CA, Al-Mohanna F, Meyer B, Alkuraya FS. Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. Am J Hum Genet. 2008 Dec;83(6):684-91. doi: 10.1016/j.ajhg.2008.10.018. Epub 2008 Nov 20. Citation on PubMed or Free article on PubMed Central
- Alazami AM, Schneider SA, Bonneau D, Pasquier L, Carecchio M, Kojovic M, Steindl K, de Kerdanet M, Nezarati MM, Bhatia KP, Degos B, Goh E, Alkuraya FS. C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients. Clin Genet. 2010 Dec;78(6):585-90. doi: 10.1111/j.1399-0004.2010.01441.x. Citation on PubMed
- Bohlega SA, Abusrair A. Woodhouse-Sakati Syndrome. 2016 Aug 4 [updated 2021 Jul 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from http://www.ncbi.nlm.nih.gov/books/NBK378974/ Citation on PubMed
- Hdiji O, Turki E, Bouzidi N, Bouchhima I, Damak M, Bohlega S, Mhiri C. Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation. J Mov Disord. 2016 May;9(2):120-3. doi: 10.14802/jmd.16003. Epub 2016 May 25. Citation on PubMed or Free article on PubMed Central
- Steindl K, Alazami AM, Bhatia KP, Wuerfel JT, Petersen D, Cartolari R, Neri G, Klein C, Mongiardo B, Alkuraya FS, Schneider SA. A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome. Clin Genet. 2010 Dec;78(6):594-7. doi: 10.1111/j.1399-0004.2010.01447.x. No abstract available. Citation on PubMed
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