Protein Name: Delta-1-pyrroline-5-carboxylate synthase
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UniprotKB/SwissProt ID: P5CS_HUMAN (P54886)
Gene Name: ALDH18A1
Synonyms: GSAS, P5CS, PYCS
Organism: Homo sapiens (Human).
Function: Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine.
Other Modifications: View all modification sites in dbPTM
Protein Subcellular Localization: Mitochondrion inner membrane.
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Protein disease:
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Disease database |
Database Entry |
Disease information | OMIM | 138250 | ALDEHYDE DEHYDROGENASE 18 FAMILY, MEMBER A1; ALDH18A1 ;;1-@PYRROLINE-5-CARBOXYLATE SYNTHETAS | OMIM | 219150 | CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION ;;DE BARSY SYNDROME;; PROGEROID SYNDROM | HPRD | 00696 | Hyperammonemia with hypoornithinemia, hypocitrullinemia, hypoargininemia, and hypoprolinemia |
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Network with metabolic pathway:
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Graphical Visualization of S-nitrosylation Sites:
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Overview of Protein S-nitrosylation Sites with Functional and Structural Information | |
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