DISEASES

Disease-gene associations mined from literature

Literature associating NMNAT1 and fundus dystrophy

NMNAT1 [ENSP00000366410]

Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1; Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP . Can also use the deamidated form; nicotinic acid mononucleotide (NaMN) as substrate with the same efficiency . Can use triazofurin monophosphate (TrMP) as substrate . Also catalyzes the reverse reaction, i.e. the pyrophosphorolytic cleavage of NAD(+) . For the pyrophosphorolytic activity, prefers NAD(+) and NaAD as substrates and degrades NADH, nicotinic acid adenine dinucleotide phosphate (NHD) and nicotinamide guanine dinucleotide (NGD) less effectively . Involved in the synthesis of ATP in the nucleus, together with PARP1, PARG and NUDT5 . Nuclear ATP generation is required for extensive chromatin remodeling events that are energy-consuming . Fails to cleave phosphorylated dinucleotides NADP(+), NADPH and NaADP(+) . Protects against axonal degeneration following mechanical or toxic insults (By similarity).

Synonyms:  NMNAT1,  NMNAT1p,  hNMNAT1,  A0A024R4E1,  B1AN62 ...

Linkouts:  STRING  Pharos  UniProt  OMIM