ALDH4A1
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.
Involvement in disease
Hyperprolinemia 2
HYRPRO2
An inborn error of proline metabolism resulting in elevated plasma levels of proline and delta-1-pyrroline-5-carboxylate (P5C). The condition is considered to be benign, but affected individuals can exhibit neurological manifestations that vary in severity. Clinical signs include seizures, intellectual deficit and mild developmental delay.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Amino-acid degradation; L-proline degradation into L-glutamate; L-glutamate from L-proline: step 2/2.
Sequence Similarities
Belongs to the aldehyde dehydrogenase family.
Tissue Specificity
Highest expression is found in liver followed by skeletal muscle, kidney, heart, brain, placenta, lung and pancreas.
Cellular localization
- Mitochondrion matrix
Alternative names
ALDH4, P5CDH, ALDH4A1, P5C dehydrogenase, Aldehyde dehydrogenase family 4 member A1, L-glutamate gamma-semialdehyde dehydrogenase