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DCAF17 encodes a nuclear transmembrane protein that associates with cullin 4A/damaged DNA binding protein 1 ubiquitin ligase complex.
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This signifies the vital yet unexplored role of DCAF17 both in development and maintenance of adult tissues homeostasis.
two novel frameshift mutations in C2orf37 present in the compound heterozygous state in an Indian family with Woodhouse-Sakati syndrome, is reported.
Direct sequencing of the C2orf37 gene revealed that the c.436delC (p.Ala147Hisfs*9) mutation was present in a homozygous state in all affected siblings and in a heterozygous state in the parents and a healthy sister.
The results of this study demonistrated that the syndrome of deafness-dystonia is cause by mutation of DCAF17.
Pakistani family with clinical manifestations of Woodhouse-Sakati Syndrome; DNA sequence analysis revealed a novel splice site mutation (c.321 + 1 G > A) in the gene C2orf37, mapped on chromosomes 2q22.3-2q35
Mutations in C2orf37 are responsible for Woodhouse-Sakati syndrome.
A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome
C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients
Mutations in C2orf37, encoding a nucleolar protein (show MCRS1 Antibodies), cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.
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.
DDB1 and CUL4 associated factor 17
, DDB1- and CUL4-associated factor 17
, protein C2orf37 homolog