Recombinant Human Pyrroline-5-carboxylate reductase 1, mitochondrial (PYCR1)

1. we firmly establish biallelic mutations in POLR3A as the genetic cause of a recognizable, neonatal, Wiedemann-Rautenstrauch-like progeroid syndrome. Thus, we suggest that POLR3A mutations are causal for a portion of under-diagnosed early-onset segmental progeroid syndromes PMID: 30450527
2. Results indicate that single-nucleotide polymorphism (SNP)-derived mutations, R119G and G206W, enhance the rigidity of pyrroline-5-carboxylate reductase (P5CR) structure. PMID: 27677826
3. these findings revealed that the mRNA and protein PYCR1 levels were significantly related to the poor outcome in either ER-negative or ER-positive breast cancer. PYCR1 could serve as a prognostic biomarker, therapeutic target and predictive biomarker for breast cancers. PMID: 28379297
4. PYCR1 forms a concentration-dependent decamer in solution, consistent with the pentamer-of-dimers assembly seen crystallographically PMID: 28258219
5. Authors found that PYCR1 was highly expressed in prostate cancer tissues and then knocked down PYCR1 in PCa cell lines (DU145, PC-3 and LNCap) via lentivirus-mediated gene delivery and analyzed its biological function. PMID: 28078560
6. experimental results indicate the R119G mutation could be an involving pathomechanism for Autosomal recessive cutis laxa . PMID: 28194412
7. Silencing of both PYCR1 and PYCR2 completely abolished anti-oxidation activity of RRM2B, demonstrating a functional collaboration of these metabolic enzymes in response to oxidative stress. PMID: 26733354
8. confirming that indeed PYCR1 generates L-pipecolic acid from Delta(1)-piperideine-6-carboxylate PMID: 24431009
9. our current study presents the second largest group of patients with PYCR1-related ARCL and expands the clinical and genetic spectrum. PMID: 24035636
10. Identification of two new mutations in the PYCR1 gene in patients with autosomal recessive cutis laxa, type 2. PMID: 23531708
11. Data suggest that DJ-1 and PYCR1 are on the same pathway of anti-oxidative stress protection of the cells. PMID: 23743200
12. The findings presented here suggest a mutation screening of PYCR1 and cardiovascular survey in patients with De Barsy syndrome (DBS). PMID: 22052856
13. 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. PMID: 21487760
14. A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family. PMID: 21567914
15. The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than ARCL2B. PMID: 21204221
16. 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(P5CR). PMID: 16730026
17. 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. PMID: 19576563
18. Mutations in PYCR1 cause cutis laxa with progeroid features. PMID: 19648921

Show More

Hide All

HGNC: 9721

OMIM: 179035

KEGG: hsa:5831

STRING: 9606.ENSP00000328858

UniGene: Hs.163451