Disease-gene associations mined from literature

Literature associating NAT8L and Canavan disease

NAT8L [ENSP00000413064]

N-acetyltransferase 8-like (GCN5-related, putative); Plays a role in the regulation of lipogenesis by producing N-acetylaspartate acid (NAA), a brain-specific metabolite. NAA occurs in high concentration in brain and its hydrolysis plays a significant part in the maintenance of intact white matter. Promotes dopamine uptake by regulating TNF-alpha expression. Attenuates methamphetamine-induced inhibition of dopamine uptake; Belongs to the camello family.

Synonyms:  NAT8L,  NAT8Lp,  hNAT8L,  Q8N9F0,  CML3 ...

Linkouts:  STRING  Pharos  UniProt