DISEASES

Disease-gene associations mined from literature

Literature associating OARD1 and autosomal recessive hypercholesterolemia

OARD1 [ENSP00000420484]

ADP-ribose glycohydrolase OARD1; ADP-ribose glycohydrolase that hydrolyzes ADP-ribose and acts on different substrates, such as proteins ADP-ribosylated on glutamate and O-acetyl-ADP-D-ribose (PubMed:23481255, PubMed:23474714, PubMed:21849506). Specifically acts as a glutamate mono-ADP- ribosylhydrolase by mediating the removal of mono-ADP-ribose attached to glutamate residues on proteins . Does not act on poly-ADP-ribosylated proteins: the poly-ADP-ribose chain of poly-ADP-ribosylated glutamate residues must by hydrolyzed into mono-ADP-ribosylated glutamate by PARG to become a substrate for OARD1 . Deacetylates O-acetyl-ADP ribose, a signaling molecule generated by the deacetylation of acetylated lysine residues in histones and other proteins . Catalyzes the deacylation of O-acetyl-ADP-ribose, O-propionyl-ADP-ribose and O- butyryl-ADP-ribose, yielding ADP-ribose plus acetate, propionate and butyrate, respectively .

Synonyms:  OARD1,  OARD1p,  hOARD1,  A0A024RCY9,  C6orf130 ...

Linkouts:  STRING  Pharos  UniProt