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P5CDH / ALDH4A1
aldehyde dehydrogenase 4 family, member A1
P5CDH / 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. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene.
| Gene Name: | aldehyde dehydrogenase 4 family, member A1 |
| Synonyms: | ALDH4A1, ALDH4, p5CD, p5CDh, p5C dehydrogenase |
| Target Sequences: | NM_003748 NP_003739.2 P30038 |
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