Disease-gene associations mined from literature

Literature associating MACROD2 and autosomal recessive hypercholesterolemia

MACROD2 [ENSP00000217246]

[Protein ADP-ribosylglutamate] hydrolase; Removes ADP-ribose from glutamate residues in proteins bearing a single ADP-ribose moiety. Inactive towards proteins bearing poly-ADP-ribose. Deacetylates O-acetyl-ADP ribose, a signaling molecule generated by the deacetylation of acetylated lysine residues in histones and other proteins.

Synonyms:  MACROD2,  MACROD2p,  hMACROD2,  A1Z1Q3,  A1Z1Q3p ...

Linkouts:  STRING  Pharos  UniProt  OMIM