Book a test
On this page
⚠ Educational content only Not medical or genetic advice. Speak with a healthcare provider or genetic counsellor before acting on anything here.

DCAF17

DDB1 and CUL4 associated factor 17

The DCAF17 gene provides instructions for a protein whose precise function is still being investigated, but it is known to be associated with Woodhouse-Sakati syndrome. The DCAF17 gene encodes a protein that is expressed in various tissues, including the brain, skin, and liver.

Chromosome 2q31.1 Autosomal recessive HGNC:25784 Tier C
DCAF17 2q31.1 p arm q arm 2

DCAF17 is located on the long (q) arm of chromosome 2, at band 2q31.1. Arm ratio per GRCh38 - banding schematic.

Explore chromosome 2 in the library →

Available at Jeen Health

Clinical tests that include this

Carrier Screening panel
DCAF17 is 1 of 1,008 genes on this panel
Expanded carrier screening for recessive and X-linked conditions

Overview

The DCAF17 gene, also known as DDB1 and CUL4 associated factor 17, is located on chromosome 2. It provides the genetic blueprint for a protein that is found within the nucleolus of cells, a sub-region of the nucleus involved in ribosome assembly. Alterations within the DCAF17 gene are recognised to cause Woodhouse-Sakati syndrome, a rare autosomal recessive disorder.

What the gene does

The protein produced from the DCAF17 gene is expressed in numerous bodily tissues, such as the brain, skin, and liver. Within cells, this protein localises to the nucleolus, which is the site where ribosomes, essential for protein synthesis, are assembled. Although the DCAF17 protein's presence in the nucleolus suggests a potential role in this process, its specific molecular function within cells has not yet been fully elucidated. Research is ongoing to understand how it contributes to overall cellular health and why its dysfunction leads to particular health conditions.

Video: Genetics 101

Chromosome location

The DCAF17 gene is situated on the long arm (q) of chromosome 2, specifically at position 2q31.1. This precise location helps geneticists identify and study the gene's structure and any variations that may occur within it.

Protein structure

Domain architecture has not been experimentally characterised in detail for this protein.

Key variants

Variations within the DCAF17 gene can include small changes in the DNA sequence, such as point mutations, or larger deletions or insertions. These genetic changes can alter the blueprint for the DCAF17 protein, potentially affecting its structure, stability, or function, and are associated with inherited conditions.

581
Total variants catalogued in ClinVar
View all on ClinVar →
57 Pathogenic / Likely pathogenic 169 Uncertain significance 334 Benign / Likely benign 21 Conflicting or other

Sample of pathogenic variants

10 pathogenic / likely-pathogenic variants from ClinVar, ranked by review status (expert-panel-reviewed first). This is a sample; recurrent founder variants in a specific population may not appear here - see the full ClinVar listing via the link above.

Variant (HGVS) Protein change Classification Evidence Associated condition
c.127-1G>C
single nucleotide variant
 - Pathogenic/Likely pathogenic ★★☆☆ Woodhouse-Sakati syndrome
c.1488_1489del
Microsatellite
 p.Arg496fs Pathogenic/Likely pathogenic ★★☆☆ Neurodegeneration with brain iron accumulation
c.1A>G
single nucleotide variant
 p.Met1Val Pathogenic/Likely pathogenic ★★☆☆ Woodhouse-Sakati syndrome
c.289dup
Duplication
 p.Ile97fs Pathogenic ★★☆☆ Woodhouse-Sakati syndrome
c.387G>A
single nucleotide variant
 p.Trp129Ter Pathogenic ★★☆☆ Woodhouse-Sakati syndrome
c.413del
Deletion
 p.Gly138fs Pathogenic/Likely pathogenic ★★☆☆ Woodhouse-Sakati syndrome
c.436del
Deletion
 p.Ala147fs Pathogenic ★★☆☆ Woodhouse-Sakati syndrome
c.580C>T
single nucleotide variant
 p.Arg194Ter Pathogenic/Likely pathogenic ★★☆☆ Woodhouse-Sakati syndrome
c.85C>T
single nucleotide variant
 p.Gln29Ter Pathogenic/Likely pathogenic ★★☆☆ Woodhouse-Sakati syndrome
c.906G>A
single nucleotide variant
 p.Trp302Ter Pathogenic ★★☆☆ Woodhouse-Sakati syndrome

Evidence stars indicate ClinVar review status. Individual variant interpretation should always be performed by a qualified clinical laboratory - many variants remain classified as Variants of Uncertain Significance (VUS) pending more research.

Associated conditions

Pathogenic variants in the DCAF17 gene are primarily associated with Woodhouse-Sakati syndrome. This condition is inherited in an autosomal recessive manner and impacts both the endocrine system and the nervous system. Key features of Woodhouse-Sakati syndrome can include delayed or absent puberty, hair loss, abnormal involuntary movements, hearing impairment, and intellectual disability.

Inheritance pattern

Conditions caused by pathogenic DCAF17 variants typically follow autosomal recessive inheritance.

♀ Carrier parent 1 altered copy ♂ Carrier parent 1 altered copy Affected Carrier Carrier Unaffected Affected Carrier Unaffected Circles = females · Squares = males

When both parents are carriers, each child has a 25% chance of being affected, 50% of being a carrier, and 25% of being unaffected.

Carrier frequency by population How common is heterozygous DCAF17 carrier status across ancestry groups?

UK clinical status

DCAF17 is included on several NHS Genomic Medicine Service approved panels for inherited conditions in the UK. These include panels for adult and childhood-onset dystonia, chorea or related movement disorders, early onset dystonia, familial diabetes, hypogonadotropic hypogonadism, intellectual disability, monogenic diabetes, and white matter disorders and cerebral calcification in childhood onset cases. The gene has a 'green' rating on these panels, indicating there is strong evidence for its association with the conditions listed.

Green-listed
High evidence · clinically actionable in NHS testing
Included in NHS GMS signed-off panels
Dystonia, chorea or related movement disorder, childhood onset · R57 NHS GMS → Monogenic diabetes · R141 NHS GMS → Dystonia, chorea or related movement disorder, adult onset NHS GMS → Intellectual disability NHS GMS → White matter disorders and cerebral calcification - childhood onset NHS GMS →
NHS Genomic Medicine Service Jeen carrier screening

Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory

Frequently asked questions

What is the DCAF17 gene?

The DCAF17 gene provides instructions for making a protein that is found in the nucleolus of cells. While its exact function is still under investigation, it is linked to Woodhouse-Sakati syndrome.

What is Woodhouse-Sakati syndrome?

Woodhouse-Sakati syndrome is an inherited disorder caused by genetic changes in the DCAF17 gene. It affects the hormone-producing glands and the nervous system, leading to symptoms like delayed puberty, hair loss, and abnormal movements.

How is Woodhouse-Sakati syndrome inherited?

Woodhouse-Sakati syndrome is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the altered DCAF17 gene, one from each parent, to develop the condition.

References

  1. Hdiji O, Turki E, Bouzidi N. Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation. Journal of movement disorders. 2016. PMID: 27240811
  2. Agopiantz M, Corbonnois P, Sorlin A. Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature. Journal of endocrinological investigation. 2014. PMID: 24464444
  3. Alazami AM, Schneider SA, Bonneau D. C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients. Clinical genetics. 2010. PMID: 20507343
  4. Steindl K, Alazami AM, Bhatia KP. A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome. Clinical genetics. 2010. PMID: 21044051
  5. Alazami AM, Al-Saif A, Al-Semari A. Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. American journal of human genetics. 2008. PMID: 19026396
  6. Adam MP, Bick S, Mirzaa GM. Woodhouse-Sakati Syndrome. 1993. PMID: 27489925
Educational content. This page is not medical or genetic advice, is not individually reviewed by a clinician for each reader, and should not replace a consultation with a qualified healthcare professional or genetic counsellor. If you are considering genetic testing or acting on a test result, book a consultation.
Data sources Last updated 4 October 2026. Content compiled from HGNC · MedlinePlus Genetics · ClinGen · Genomics England PanelApp · NHS National Genomic Test Directory · ClinVar · UniProt · AlphaFold .