- Source: Aldehyde dehydrogenase 4 family, member A1
- Aldehyde dehydrogenase 4 family, member A1
- Aldehyde dehydrogenase 3 family, member A1
- Aldehyde dehydrogenase 5 family, member A1
- Aldehyde dehydrogenase 9 family, member A1
- Aldehyde dehydrogenase 18 family, member A1
- Aldehyde dehydrogenase 6 family, member A1
- List of A1 genes, proteins or receptors
- Aldo-keto reductase family 1, member A1
- ALDH1A1
- Indole-3-acetaldehyde
Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the ALDH4A1 gene.
This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase that 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. Two transcript variants encoding the same protein have been identified for this gene.
References
External links
Human ALDH4A1 genome location and ALDH4A1 gene details page in the UCSC Genome Browser.
PDBe-KB provides an overview of all the structure information available in the PDB for Human Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial (ALDH4A1)
PDBe-KB provides an overview of all the structure information available in the PDB for Mouse Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial (ALDH4A1)