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

Disease related genes, Enzymes, Mapped to UniProt SWISS-PROT, Mitochondrial proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Protein evidence (Ezkurdia et al 2014), Protein evidence (Kim et al 2014)

Chromosome

1:p36.13 (18871430 - 18902781)

Ensembl ID

ENSG00000159423  (ver. 84.38)

Orthologs

Mouse Aldh4a1: ENSMUSG00000028737

UniProt

P30038

neXtProt

NX_P30038

Human splice variants
Mouse splice variants