DISEASES

Disease-gene associations mined from literature

Literature associating ALDH7A1 and cone-rod dystrophy 2

ALDH7A1 [ENSP00000387123]

Delta1-piperideine-6-carboxylate dehydrogenase; Multifunctional enzyme mediating important protective effects. Metabolizes betaine aldehyde to betaine, an important cellular osmolyte and methyl donor. Protects cells from oxidative stress by metabolizing a number of lipid peroxidation-derived aldehydes. Involved in lysine catabolism.

Synonyms:  ALDH7A1,  ALDH7A1p,  hALDH7A1,  F8VS02,  F8VVF2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM