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
Hyperprolinemia is a condition which occurs when the amino acid proline is not broken down properly by the enzymes proline oxidase or 1-Pyrroline-5-carboxylate dehydrogenase, pyrroline-5-carboxylate dehydrogenase, causing a buildup of proline in t ...
, 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
*
PDBe-KBprovides an overview of all the structure information available in the PDB for Human Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial (ALDH4A1)
PDBe-KBprovides an overview of all the structure information available in the PDB for Mouse Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial (ALDH4A1)
Further reading
*
*
*
*
*
*
*
*
*
*
*
{{Aldehyde dehydrogenases