DISEASES

Disease-gene associations mined from literature

Literature associating ALDH4A1 and succinic semialdehyde dehydrogenase deficiency

ALDH4A1 [ENSP00000364490]

Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial; Irreversible conversion of delta-1-pyrroline-5-carboxylate (P5C), derived either from proline or ornithine, to glutamate. This is a necessary step in the pathway interconnecting the urea and tricarboxylic acid cycles. The preferred substrate is glutamic gamma- semialdehyde, other substrates include succinic, glutaric and adipic semialdehydes.

Synonyms:  ALDH4A1,  ALDH4A1p,  hALDH4A1,  A0A024RAD8,  P30038 ...

Linkouts:  STRING  Pharos  UniProt