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Article

Disease variants of human Δ1-pyrroline-5-carboxylate reductase 2 (PYCR2).

Archives of biochemistry and biophysics - 30 May 2021

Patel Sagar M, Seravalli Javier, Liang Xinwen, Tanner John J, Becker Donald F

Abstract excerpt

Pyrroline-5-carboxylate reductase (PYCR in humans) catalyzes the final step of l-proline biosynthesis by catalyzing the reduction of L-Δ1-pyrroline-5-carboxylate (L-P5C) to l-proline using NAD(P)H as the hydride donor. In humans, three isoforms PYCR1, PYCR2, and PYCR3 are known. Recent genome-wide association and clinical studies have revealed that homozygous mutations in human PYCR2 lead to postnatal...

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Identifiers

PMID: 33771508
DOI: 10.1016/j.abb.2021.108852
PMCID: PMC8120637

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