Study found that a partial duplication of a well-characterized gene the HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase 2 gene (HERC2) (esv3635993) showed apparently higher allele frequency differentiation from the other gene duplications as well as the majority of random SNVs analyzed as a null background.
HERC2 is a master regulator of G-quadruplex a DNA secondary structure that triggers genomic instability through BLM WRN and RPA and may serve as a potential molecular target in cancer therapy
Evaluated the association of seven OCA2-HERC2 SNPs and haplotypes with pigmentation characteristics (eye skin hair and freckles) in the highly admixed and phenotypically heterogeneous Brazilian population. Such SNPs and haplotypes could be deemed as good predictors for the presence of freckles and for skin eye and hair pigmentation in the Brazilian population.
We showed that loss of HERC2 function leads to the accumulation of XPA and BRCA1 in the patient's fibroblasts and generates decreased sensitivity to apoptosis and increased level of DNA repair
By downregulating acetylated LKB1 protein via HERC2 SIRT1 fine-tunes the crosstalk between endothelial and vascular smooth muscle cells to prevent adverse arterial remodeling and maintain vascular homeostasis
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