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PYCR1 encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. Additionally we are shipping Pyrroline-5-Carboxylate Reductase 1 Antibodies (56) and Pyrroline-5-Carboxylate Reductase 1 Proteins (14) and many more products for this protein.
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confirming that indeed PYCR1 generates L-pipecolic acid from Delta(1)-piperideine-6-carboxylate
our current study presents the second largest group of patients with PYCR1-related ARCL (show ATP6V0A2 ELISA Kits) and expands the clinical and genetic spectrum.
Identification of two new mutations in the PYCR1 gene in patients with autosomal recessive cutis laxa, type 2.
Data suggest that DJ-1 (show PARK7 ELISA Kits) and PYCR1 are on the same pathway of anti-oxidative stress protection of the cells.
The findings presented here suggest a mutation screening of PYCR1 and cardiovascular survey in patients with De Barsy syndrome (DBS (show MCF2L ELISA Kits)).
Mutation analysis revealed the presence of disease-causing variants in PYCR1, including a novel deletion of the entire PYCR1 gene in one family, and in each of the other patients the homozygous missense mutations.
A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family.
The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than ARCL2B.
Mutagenesis and kinetic studies reveal the pivotal roles of the dinucleotide-binding Rossmann motif and residue Glu221 in the human enzyme Pyrroline-5-carboxylate reductase (show PYCR2 ELISA Kits)(P5CR).
In Autosomal-recessive cutis laxa type 2, a single nucleotide change leads to a missense mutation adjacent to a splice junction in the gene encoding PYCR1.
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.
P5C reductase 1
, mitochondrial pyrroline-5-carboxylate reductase 1
, proliferation-inducing protein 45
, pyrroline-5-carboxylate reductase 1, mitochondrial
, P5CR 1