aldehyde dehydrogenase 4 family, member A1 (aldehyde dehydrogenase 4, pyrroline 5 carboxylate dehydrogenase, ALDH4A1, ALDH4, P5CDH)

Function

• irreversible conversion of delta-1-pyrroline-5-carboxylate (P5C), derived either from proline or ornithine, to glutamate, a necessary step in the pathway interconnecting the urea & tricarboxylic acid cycles
• preferred substrate is glutamic gamma-semialdehyde, other substrates include succinic, glutaric & adipic semialdehydes
• amino-acid degradation; L-proline degradation into L-glutamate
• L-glutamate from L-proline: step 2/2

1-pyrroline-5-carboxylate + NAD+ + H2O <--> L-glutamate + NADH

Structure

• homodimer
• belongs to the aldehyde dehydrogenase family

Compartment

mitochondria matrix

Expression

• highest expression is found in liver followed by skeletal muscle, kidney, heart, brain, placenta, lung & pancreas

Pathology

• defects in ALDH4A1 are the cause of hyperprolinemia type II

More general terms

• aldehyde dehydrogenase
• mitochondrial protein

Database

• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:8659
• OMIM: https://mirror.omim.org/entry/239510
• OMIM: https://mirror.omim.org/entry/606811
• UniProt: http://www.uniprot.org/uniprot/P30038.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=8659