Species: Hu
Applications: WB, ELISA, IHC
Host: Mouse Monoclonal
Species: Hu, Mu, Rt
Applications: WB, IHC
Host: Rabbit Polyclonal
Species: Hu, Mu, Rt
Applications: WB, ICC/IF, IHC
Host: Mouse Monoclonal
Species: Hu
Applications: WB, ELISA, MA, PAGE, AP
Species: Hu
Applications: AC
Species: Hu
Applications: AC
Description
ALDH4A1 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 |
Human |
Uniprot |
Human Human Human 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
- P5CDH
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