DISEASES

Disease-gene associations mined from literature

Literature associating MARC2 and familial adult myoclonic epilepsy 3

MARC2 [ENSP00000355880]

Mitochondrial amidoxime reducing component 2; Catalyzes the reduction of N-oxygenated molecules, acting as a counterpart of cytochrome P450 and flavin-containing monooxygenases in metabolic cycles . As a component of prodrug-converting system, reduces a multitude of N-hydroxylated prodrugs particularly amidoximes, leading to increased drug bioavailability . May be involved in mitochondrial N(omega)-hydroxy-L-arginine (NOHA) reduction, regulating endogenous nitric oxide levels and biosynthesis . Postulated to cleave the N-OH bond of N-hydroxylated substrates in concert with electron transfer from NADH to cytochrome b5 reductase then to cytochrome b5, the ultimate electron donor that primes the active site for substrate reduction .

Synonyms:  MARC2,  MARC2p,  hMARC2,  F6V6Z1,  Q969Z3 ...

Linkouts:  STRING  Pharos  UniProt