Aliases for ALDH4A1 Gene
External Ids for ALDH4A1 Gene
Previous HGNC Symbols for ALDH4A1 Gene
Previous GeneCards Identifiers for ALDH4A1 Gene
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. [provided by RefSeq, Jun 2009]
GeneCards Summary for ALDH4A1 Gene
ALDH4A1 (Aldehyde Dehydrogenase 4 Family, Member A1) is a Protein Coding gene. Diseases associated with ALDH4A1 include hyperprolinemia, type ii and hyperprolinemia. Among its related pathways are Metabolism and Arginine and proline metabolism. GO annotations related to this gene include identical protein binding and aldehyde dehydrogenase (NAD) activity.
UniProtKB/Swiss-Prot for ALDH4A1 Gene
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.