Gene: DCAF17

Alternate names for this Gene: C20orf37|C2orf37

Gene Summary: This gene encodes a nuclear transmembrane protein that associates with cullin 4A/damaged DNA binding protein 1 ubiquitin ligase complex. Mutations in this gene are associated with Woodhouse-Sakati syndrome. Alternate splicing results in multiple transcript variants.

Gene is located in Chromosome: 2

Location in Chromosome : 2q31.1

Description of this Gene: DDB1 and CUL4 associated factor 17

Type of Gene: protein-coding

rs879253799 in DCAF17 gene and Alopecia PMID 26612766 2016 Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome.

rs879253799 in DCAF17 gene and Dystonia PMID 26612766 2016 Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome.

rs879253799 in DCAF17 gene and Hypogonadism PMID 26612766 2016 Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome.

rs780493577 in DCAF17 gene and Woodhouse Sakati syndrome PMID 20507343 2010 C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.

PMID 19026396 2008 Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 26612766 2016 Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome.

rs879253799 in DCAF17 gene and hearing impairment PMID 26612766 2016 Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome.