DDB1 And CUL4 Associated Factor 17 (DCAF17)

DCAF17 displays extreme splicing variability, including 2 major variants, called alpha and beta, that encode proteins of 240 and 520 amino acids, respectively. The alpha isoform is identical to the last 240 amino acids of the beta isoform. Real-time RT-PCR of various adult human tissues revealed low ubiquitous expression of both variants. nearly ubiquitous nucleolar expression of C2orf37 in mouse embryos, with enhanced staining in brain, liver, and skin. Both the alpha and beta isoforms of endogenous C2ORF37 colocalized with the nucleolar phosphoprotein B23 (NPM1) in human embryonic kidney (HEK293) cells.In contrast, in lymphoblasts from patients with WSS, C2ORF37 and B23 migrated to the nucleoplasmic compartment after low-dose actinomycin D treatment, suggesting enhanced sensitivity to transcriptional blockade.