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DCAF17 encodes a nuclear transmembrane protein that associates with cullin 4A/damaged DNA binding protein 1 ubiquitin ligase complex. Additionally we are shipping and many more products for this protein.
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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