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DCAF17 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

DCAF17 gene

The DCAF17 gene provides instructions for making a protein found in the nucleolus, though its exact biological function remains unknown.

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.

Other Names for This Gene

  • C2orf37
  • FLJ13096

Frequently Asked Questions

The syndrome follows an autosomal recessive inheritance pattern. Affected individuals inherit two pathogenic copies of DCAF17, one from each parent. Carriers (with one mutated allele) are typically asymptomatic. Genetic counseling for families can estimate recurrence risk and discuss options such as prenatal testing or preimplantation genetic diagnosis.
Confirmation requires a DNA sample (usually blood) sent for targeted sequencing of the DCAF17 gene. The test identifies pathogenic or likely pathogenic variants, such as nonsense or frameshift mutations that truncate the protein. Once a variant is found, it is validated by Sanger sequencing, and parental testing may be performed to determine if the mutation is inherited or de novo.
Woodhouse‑Sakati syndrome typically presents with delayed or absent puberty, progressive hair loss (alopecia), hypogonadism, sensorineural hearing loss, and mild to moderate intellectual disability. Patients may also develop abnormal movements such as tremors or dystonia, and some experience endocrine abnormalities like diabetes mellitus or hypoparathyroidism. Early signs often include growth retardation and skin changes such as sparse scalp hair.
Management is multidisciplinary and symptom‑based. Endocrinologists monitor and treat hormone deficiencies (e.g., testosterone replacement for hypogonadism, thyroid hormone for hypothyroidism). Audiologists manage hearing loss with hearing aids or cochlear implants. Neurologists address movement disorders with medications or physical therapy. Regular dental care is important due to enamel defects, and nutritional support may be needed for growth and metabolic issues. Early intervention and ongoing monitoring improve functional outcomes and quality of life.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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