PYCR1 cdna clone
PYCR1 cDNA Clone
NCBI and Uniprot Product Information
NCBI Description
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. [provided by RefSeq, Jul 2008]
Uniprot Description
PYCR1: Housekeeping enzyme that catalyzes the last step in proline biosynthesis. Can utilize both NAD and NADP, but has higher affinity for NAD. Involved in the cellular response to oxidative stress. Defects in PYCR1 are the cause of cutis laxa autosomal recessive type 2B (ARCL2B). A multisystem disorder characterized by the appearance of premature aging, wrinkled and lax skin with reduced elasticity, joint laxity, craniofacial dysmorphic features, intrauterine growth retardation with some degree of postnatal growth deficiency, and developmental delay. Defects in PYCR1 are the cause of cutis laxa, autosomal recessive, type 3B (ARCL3B). ARCL3B is a disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation, and cutis laxa. Belongs to the pyrroline-5-carboxylate reductase family.
Protein type: Amino Acid Metabolism - arginine and proline; Oxidoreductase; Mitochondrial; EC 1.5.1.2
Chromosomal Location of Human Ortholog: 17q25.3
Cellular Component: mitochondrion; mitochondrial matrix
Molecular Function: identical protein binding; protein binding; pyrroline-5-carboxylate reductase activity
Biological Process: regulation of mitochondrial membrane potential; proline biosynthetic process; amino acid biosynthetic process
Disease: Cutis Laxa, Autosomal Recessive, Type Iib; Cutis Laxa, Autosomal Recessive, Type Iiib
Research Articles on PYCR1
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Product Notes
The PYCR1 pycr1 (Catalog #AAA1266775) is a cDNA Clone and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: atgagcgtgg gcttcatcgg cgctggccag ctggcttttg ccctggccaa gggcttcaca gcagcaggcg tcttggctgc ccacaagata atggctagct ccccagacat ggacctggcc acagtttctg ctctcaggaa gatgggggtg aagttgacac cccacaacaa ggagacggtg cagcacagtg atgtgctctt cctggctgtg aagccacaca tcatcccctt catcctggat gaaataggcg ccgacattga ggacagacac attgtggtgt cctgcgcggc cggcgtcacc atcagctcca ttgagaagaa gctgtcagcg tttcggccag cccccagggt catccgctgc atgaccaaca ctccagtcgt ggtgcgggag ggggccaccg tgtatgccac aggcacgcac gcccaggtgg aggacgggag gctcatggag cagctgctga gcagcgtggg cttctgcacg gaggtggaag aggacctgat tgatgccgtc acggggctca gtggcagcgg ccccgcctac gcattcacag ccctggatgc cctggctgat gggggcgtga agatgggact tccaaggcgc ctggcagtcc gcctcggggc ccaggccctc ctgggggctg ccaagatgct gctgcactca gaacagcacc caggccagct caaggacaac gtcagctctc ctggtggggc caccatccat gccttgcatg tgctggagag tgggggcttc cgctccctgc tcatcaacgc tgtggaggcc tcctgcatcc gcacacggga gctgcagtcc atggctgacc aggagcaggt gtcaccagcc gccatcaaga agaccatcct ggacaaggtg aagctggact cccctgcagg gaccgctctg tcgccttctg gccacaccaa gctgctcccc cgcagcctgg ccccagcggg caaggattga. It is sometimes possible for the material contained within the vial of "PYCR1, cDNA Clone" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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