DISEASES

Disease-gene associations mined from literature

Literature associating PARPBP and autosomal recessive hypercholesterolemia

PARPBP [ENSP00000332915]

PCNA-interacting partner; Required to suppress inappropriate homologous recombination, thereby playing a central role DNA repair and in the maintenance of genomic stability. Antagonizes homologous recombination by interfering with the formation of the RAD51-DNA homologous recombination structure. Binds single-strand DNA and poly(A) homopolymers. Positively regulate the poly(ADP- ribosyl)ation activity of PARP1; however such function may be indirect; Belongs to the PARI family.

Synonyms:  PARPBP,  A0A024RBG0,  B4DT40,  B4DZ31,  C12ORF48 ...

Linkouts:  STRING  Pharos  UniProt