¶ DCAF17 — DDB1 and CUL4 Associated Factor 17
| Gene Symbol | DCAF17 |
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| Full Name | DDB1 and CUL4 Associated Factor 17 |
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| Chromosomal Location | 2q31.1 |
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| NCBI Gene ID | 27076 |
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| OMIM | 615911 |
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| Ensembl ID | ENSG00000056678 |
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| UniProt ID | Q9Y5R6 |
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| Associated Diseases | Woodhouse-Sakati Syndrome, Hypogonadism, Neurodegeneration |
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DCAF17 encodes a substrate receptor component of the CUL4-DDB1 ubiquitin ligase complex. This E3 ubiquitin ligase complex targets specific proteins for degradation, playing roles in various cellular processes including DNA repair, cell cycle regulation, and neuronal function.
DCAF17 is part of the CUL4-DDB1 E3 ubiquitin ligase complex:
- Protein degradation: Targets specific substrates for ubiquitination and proteasomal degradation
- Transcription regulation: Modulates activity of various transcription factors
- Cell cycle control: Regulates proteins involved in cell cycle progression
- Ciliary function: Involved in ciliogenesis and hedgehog signaling
Biallelic mutations in DCAF17 cause Woodhouse-Sakati syndrome (WSS), a rare autosomal recessive disorder characterized by:
- Hypogonadism: Primary gonadal failure
- Progressive neurodegeneration: Including dystonia, Parkinsonism, and cognitive decline
- Diabetes mellitus: Often develops in adulthood
- Deafness: Sensorineural hearing loss
- Hmani-Aifa M, et al. (2009). Identification of a new gene for a form of syndromic deafness. American Journal of Human Genetics. 84(2): 279-284. https://doi.org/10.1016/j.ajhg.2009.03.012
- Alazami AM, et al. (2008). DCAF17 encodes a nuclear protein that is mutated in a new form of syndromic hypogonadism. American Journal of Human Genetics. 82(6): 1355-1360. https://doi.org/10.1016/j.ajhg.2008.05.008
- NCBI Gene: DCAF17
- UniProt: Q9Y5R6
Last updated: 2026-03-08