DISEASES

Disease-gene associations mined from literature

Literature associating ADPRHL2 and autosomal recessive hypercholesterolemia

ADPRHL2 [ENSP00000362273]

[Protein ADP-ribosylarginine] hydrolase-like protein 2; Poly(ADP-ribose) synthesized after DNA damage is only present transiently and is rapidly degraded by poly(ADP-ribose) glycohydrolase. Poly(ADP-ribose) metabolism may be required for maintenance of the normal function of neuronal cells. Generates ADP-ribose from poly-(ADP-ribose), but does not hydrolyze ADP- ribose-arginine, -cysteine, -diphthamide, or -asparagine bonds. Due to catalytic inactivity of PARG mitochondrial isoforms, ARH3 is the only PAR hydrolyzing enzyme in mitochondria.

Synonyms:  ADPRHL2,  ADPRHL2p,  hADPRHL2,  B4DHV5,  B7ZAN4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM