ALDH4A1 Products

Description

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. Two transcript variants encoding the same protein have been identified for this gene.

Bioinformatics

Entrez	8659 Human
Uniprot	AAH07581 Human
Product By Gene ID	8659
Alternate Names	aldehyde dehydrogenase 4 family, member A1 Aldehyde dehydrogenase family 4 member A1 ALDH4DKFZp779M035 delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial EC 1.5.1.12 mitochondrial delta-1-pyrroline 5-carboxylate dehydrogenase P5C dehydrogenase P5CD P5CDH