DCAF17
Function
May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.
Involvement in disease
Woodhouse-Sakati syndrome
WDSKS
A rare autosomal recessive disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Protein modification; protein ubiquitination.
Tissue Specificity
Ubiquitously expressed.
Cellular localization
- Membrane
- Multi-pass membrane protein
- Nucleus
- Nucleolus
- According to PubMed:19026396, it is a nucleolar protein, while sequence analysis programs clearly predict 2 transmembrane regions.
Alternative names
C2orf37, DCAF17, DDB1- and CUL4-associated factor 17