1.5.1.2: pyrroline-5-carboxylate reductase
This is an abbreviated version!
For detailed information about pyrroline-5-carboxylate reductase, go to the full flat file.
Reaction
Synonyms
1-pyrroline-5-carboxylate reductase, aldimine reductase, DELTA1-pyrroline-5-carboxylate reductase, DELTA1-pyrroline-5-carboxylate reductase 2, L-proline oxidase, L-proline-NAD(P)+ 5-oxidoreductase, L-proline:NAD(P)+ 5-oxidoreductase, MTR_7g090160, NADPH-L-DELTA'-pyrroline carboxylic acid reductase, P5C reductase, P5CDH, P5CR, PO, POX, PROC, proline oxidase, Pycr1, PYCR2, Pyr5C reductase, pyrroline-5-carboxylate dehydrogenase, pyrroline-5-carboxylate reductase, reductase, pyrroline-5-carboxylate, TcCLB.509207.90
ECTree
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Engineering
Engineering on EC 1.5.1.2 - pyrroline-5-carboxylate reductase
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R119C
R251C
T238A
mutation in conserved residue, about 10fold decrease in catalytic efficiency
additional information
mutation identified in patient with microcephaly and hypomyelination, mutant is catalytically impaired
R119C
a naturally occuring mutation in patients with microcephaly and hypomyelination. The mutant is catalytically impaired, depending on whether NADPH or NADH is used, the catalytic efficiency of the R119C protein variant is 40 or 366 times lower than that of the wild-type enzyme
mutation identified in patient with microcephaly and hypomyelination, mutant is catalytically impaired and has a pronounced folding defect
R251C
a naturally occuring mutation in patients with microcephaly and hypomyelination. The mutant is catalytically impaired, depending on whether NADPH or NADH is used, the catalytic efficiency of the R119C protein variant is 7 or 26 times lower than that of the wild-type enzyme. The R251C protein variant has a pronounced folding defect. The R251C variant displays the least overall regular alpha-helical character of the PYCR2 proteins, yet the R251C variant also displays strong overall regular beta-strand or beta-sheet character
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N-truncation results in an insoluble protein, C-truncation does not alter the activity
additional information
identification of a single homozygous region near the telomere of chromosome 17 in a cohort of patients with cutis laxa type 2. The single nucleotide change leads to a missense mutation adjacent to a slice junction in the gene encoding pyrroline-5-carboxylate reductase 1 which results in exon skipping and leads to deletion of reductase functional domain-coding region and an obligatory downstream frameshift
additional information
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identification of a single homozygous region near the telomere of chromosome 17 in a cohort of patients with cutis laxa type 2. The single nucleotide change leads to a missense mutation adjacent to a slice junction in the gene encoding pyrroline-5-carboxylate reductase 1 which results in exon skipping and leads to deletion of reductase functional domain-coding region and an obligatory downstream frameshift