Recombinant Human Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial (ALDH4A1)

Uniprot Id

P30038

Target Species

Human

Target Name

ALDH4A1

Target Full Name

Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial

Target Function

Irreversible conversion of delta-1-pyrroline-5-carboxylate (P5C), derived either from proline or ornithine, to glutamate. This is a necessary step in the pathway interconnecting the urea and tricarboxylic acid cycles. The preferred substrate is glutamic gamma-semialdehyde, other substrates include succinic, glutaric and adipic semialdehydes.

Target Involvement

Hyperprolinemia 2 (HYRPRO2)

Target Subcellular Location

Mitochondrion matrix.

Target Protein Families

Aldehyde dehydrogenase family

Target Tissue Specificity

Highest expression is found in liver followed by skeletal muscle, kidney, heart, brain, placenta, lung and pancreas.

Target Synonyms

AL4A1_HUMAN; aldehyde dehydrogenase 4; aldehyde dehydrogenase 4 family; member A1; Aldehyde dehydrogenase family 4 member A1; Aldehyde dehydrogenase; family 4; subfamily A; member 1; ALDH4; aldh4a1; Delta 1 pyrroline 5 carboxylate dehydrogenase; mitochondrial; Delta-1-pyrroline-5-carboxylate dehydrogenase; L-glutamate gamma-semialdehyde dehydrogenase; mitochondrial; mitochondrial delta-1-pyrroline 5-carboxylate dehydrogenase; P5C dehydrogenase; P5CD; P5CDh; P5CDhL; P5CDhS; Pyrroline-5-carboxylate dehydrogenase; RP11 128M10.1

Target Background

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.