• Source: PYCR1

Pyrroline-5-carboxylate reductase 1, mitochondrial is an enzyme that in humans is encoded by the PYCR1 gene.
This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. This enzyme may also play a physiologic role in the generation of NADP(+) in some cell types. The protein forms a homopolymer and localizes to the mitochondrion. Alternate splicing results in two transcript variants encoding different isoforms. As reported by Bruno Reversade and colleagues, PYCR1 deficiency in humans causes a progeroid disease known as De Barsy Syndrome mainly affecting connective tissues with dermis thinning and bone fragility.




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PDBe-KB provides an overview of all the structure information available in the PDB for Human Pyrroline-5-carboxylate reductase 1, mitochondrial (PYCR1)

Kata Kunci Pencarian:

• PYCR1
• Progeria
• Cutis laxa
• Xenopus
• List of human protein-coding genes 3
• Stress granule
• De Barsy syndrome
• Pyrroline-5-carboxylate reductase
• FASTKD3
• NOXRED1