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Crystal structure of human 1-pyrroline-5-carboxylate dehydrogenase mutant S352ACrystal structure of human 1-pyrroline-5-carboxylate dehydrogenase mutant S352A
Structural highlights
DiseaseAL4A1_HUMAN Hyperprolinemia type 2. The disease is caused by mutations affecting the gene represented in this entry. FunctionAL4A1_HUMAN 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.[1] See AlsoReferences
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