ALDH4A1

This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009]

Description

aldehyde dehydrogenase 4 family, member A1

Protein family

Enzymes, Mapped to UniProt SWISS-PROT, Potential transmembrane proteins

Chromosome

1:p36.13 (19197926 - 19229275)

Ensembl ID

ENSG00000159423  (ver. 71.37)

Orthologs

Mouse Aldh4a1: ENSMUSG00000028737

Human splice variants
Mouse splice variants