Annotation inferences using phylogenetic trees
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
Electronic Gene Ontology annotations created by ARBA machine learning models
Combined Automated Annotation using Multiple IEA Methods
Functional specialization in proline biosynthesis of melanoma.
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Recombinant human PYCR2 was purified and directly assayed for NAD(P)H-dependent reduction of P5C to proline (core molecular function GO:0004735).
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Cell fractionation localized PYCR1 and PYCR2 to mitochondria (distinct from cytosolic PYCRL), and siRNA silencing showed PYCR2 acts predominantly in the glutamate-derived route of proline biosynthesis.
Frequent amplification of ORAOV1 gene in esophageal squamous cell cancer promotes an aggressive phenotype via proline metabolism and ROS production.
Mutations in PYCR2, encoding pyrroline-5-carboxylate reductase 2, cause microcephaly and hypomyelination.
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Biallelic PYCR2 variants (p.Arg119Cys, p.Arg251Cys) cause hypomyelinating leukodystrophy 10 (HLD10); mutant proteins retain mitochondrial localization but are less stable.
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A CRISPR PYCR2-knockout line showed decreased mitochondrial membrane potential and increased susceptibility to apoptosis under oxidative stress; zebrafish ortholog knockdown recapitulated microcephaly.
Purified human erythrocyte pyrroline-5-carboxylate reductase. Preferential oxidation of NADPH.
Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context.
Pyrroline-5-carboxylate reductase in human erythrocytes.
PYCR2 decamer reduces (S)-1-pyrroline-5-carboxylate to L-Pro