DISEASES

Disease-gene associations mined from literature

Literature associating ACMSD and pellagra

ACMSD [ENSP00000348459]

2-amino-3-carboxymuconate-6-semialdehyde decarboxylase; Converts alpha-amino-beta-carboxymuconate-epsilon- semialdehyde (ACMS) to alpha-aminomuconate semialdehyde (AMS). ACMS can be converted non-enzymatically to quinolate (QA), a key precursor of NAD, and a potent endogenous excitotoxin of neuronal cells which is implicated in the pathogenesis of various neurodegenerative disorders. In the presence of ACMSD, ACMS is converted to AMS, a benign catabolite. ACMSD ultimately controls the metabolic fate of tryptophan catabolism along the kynurenine pathway; Belongs to the metallo-dependent hydrolases superfamily. ACMSD family.

Synonyms:  ACMSD,  Q8TDX5,  Q8TDX5p,  hQ8TDX5,  130013 ...

Linkouts:  STRING  Pharos  UniProt  OMIM