DISEASES

Disease-gene associations mined from literature

Literature associating NMNAT2 and tauopathy

NMNAT2 [ENSP00000287713]

Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2; Nicotinamide/nicotinate-nucleotide adenylyltransferase that acts as an axon maintenance factor (By similarity). Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP . Can also use the deamidated form; nicotinic acid mononucleotide (NaMN) as substrate but with a lower efficiency . Cannot use triazofurin monophosphate (TrMP) as substrate . Also catalyzes the reverse reaction, i.e. the pyrophosphorolytic cleavage of NAD(+) . For the pyrophosphorolytic activity prefers NAD(+), NADH and NaAD as substrates and degrades nicotinic acid adenine dinucleotide phosphate (NHD) less effectively . Fails to cleave phosphorylated dinucleotides NADP(+), NADPH and NaADP(+) . Axon survival factor required for the maintenance of healthy axons: acts by delaying Wallerian axon degeneration, an evolutionarily conserved process that drives the loss of damaged axons (By similarity).

Synonyms:  NMNAT2,  NMNAT2p,  hNMNAT2,  Q9BZQ4,  Q9BZQ4p ...

Linkouts:  STRING  Pharos  UniProt  OMIM