XB-GENEPAGE-5765544
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aldh18a1
???displayGene.name???:
aldehyde dehydrogenase 18 family member A1
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Nomenclature history )
???displayGene.geneFunction???
Gamma-glutamyl phosphate reductase
AI Protein Function
:
aldh18a1 encodes a mitochondrial pyrroline‑5‑carboxylate synthase enzyme that catalyzes the ATP‑dependent conversion of glutamate to glutamate‑5‑semialdehyde, a key step in proline and ornithine biosyn...[+]
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Diseases:
Disease Ontology:
hereditary spastic paraplegia 9A
MIM:
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A
External Links:
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