PKLR
ایزوزیم راست/چپ پیرووات کیناز (انگلیسی: Pyruvate kinase isozymes R/L) یک آنزیم است که در انسان توسط ژن «PKLR» کدگذاری میشود.[۴][۵]
پروتئین حاصله از این ژن یک پیرووات کیناز است که ساخت پیرووات و ATP را از فسفوئنولپیرووات سبب میشود. نقص در این آنزیم، یکی از دلایل شایع «کمخونی همولیتیک غیراسفروسیتی ارثی» است.
منابع
- ↑ ۱٫۰ ۱٫۱ ۱٫۲ GRCm38: Ensembl release 89: ENSMUSG00000041237 - Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ Tani K, Fujii H, Tsutsumi H, Sukegawa J, Toyoshima K, Yoshida MC, Noguchi T, Tanaka T, Miwa S (Apr 1987). "Human liver type pyruvate kinase: cDNA cloning and chromosomal assignment". Biochem Biophys Res Commun. 143 (2): 431–8. doi:10.1016/0006-291X(87)91372-6. PMID 3566732.
- ↑ "Entrez Gene: PKLR pyruvate kinase, liver and RBC".
- مشارکتکنندگان ویکیپدیا. «PKLR». در دانشنامهٔ ویکیپدیای انگلیسی، بازبینیشده در ۲۰ اکتبر ۲۰۱۸.
بیشتر بخوانید
- Beutler E, Baronciani L (1996). "Mutations in pyruvate kinase". Hum. Mutat. 7 (1): 1–6. doi:10.1002/(SICI)1098-1004(1996)7:1<1::AID-HUMU1>3.0.CO;2-H. PMID 8664896.
- Baronciani L, Bianchi P, Zanella A (1999). "Hematologically important mutations: red cell pyruvate kinase (2nd update)". Blood Cells Mol. Dis. 24 (3): 273–9. doi:10.1006/bcmd.1998.0193. PMID 10087985.
- Zanella A, Fermo E, Bianchi P, et al. (2007). "Pyruvate kinase deficiency: the genotype-phenotype association". Blood Rev. 21 (4): 217–31. doi:10.1016/j.blre.2007.01.001. PMID 17360088.
- Kanno H, Fujii H, Miwa S (1992). "Structural analysis of human pyruvate kinase L-gene and identification of the promoter activity in erythroid cells". Biochem. Biophys. Res. Commun. 188 (2): 516–23. doi:10.1016/0006-291X(92)91086-6. PMID 1445295.
- Kanno H, Fujii H, Hirono A, et al. (1992). "Identical point mutations of the R-type pyruvate kinase (PK) cDNA found in unrelated PK variants associated with hereditary hemolytic anemia". Blood. 79 (5): 1347–50. PMID 1536957.
- Dawson SJ, White LA (1992). "Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin". J. Infect. 24 (3): 317–20. doi:10.1016/S0163-4453(05)80037-4. PMID 1602151.
- Kanno H, Fujii H, Hirono A, Miwa S (1991). "cDNA cloning of human R-type pyruvate kinase and identification of a single amino acid substitution (Thr384----Met) affecting enzymatic stability in a pyruvate kinase variant (PK Tokyo) associated with hereditary hemolytic anemia". Proc. Natl. Acad. Sci. U.S.A. 88 (18): 8218–21. doi:10.1073/pnas.88.18.8218. PMC 52478. PMID 1896471.
- Neubauer B, Lakomek M, Winkler H, et al. (1991). "Point mutations in the L-type pyruvate kinase gene of two children with hemolytic anemia caused by pyruvate kinase deficiency". Blood. 77 (9): 1871–5. PMID 2018831.
- Tani K, Fujii H, Nagata S, Miwa S (1988). "Human liver type pyruvate kinase: complete amino acid sequence and the expression in mammalian cells". Proc. Natl. Acad. Sci. U.S.A. 85 (6): 1792–5. doi:10.1073/pnas.85.6.1792. PMC 279865. PMID 3126495.
- Satoh H, Tani K, Yoshida MC, et al. (1988). "The human liver-type pyruvate kinase (PKL) gene is on chromosome 1 at band q21". Cytogenet. Cell Genet. 47 (3): 132–3. doi:10.1159/000132530. PMID 3378452.
- Baronciani L, Beutler E (1995). "Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia". J. Clin. Invest. 95 (4): 1702–9. doi:10.1172/JCI117846. PMC 295683. PMID 7706479.
- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Kanno H, Ballas SK, Miwa S, et al. (1994). "Molecular abnormality of erythrocyte pyruvate kinase deficiency in the Amish". Blood. 83 (8): 2311–6. PMID 8161798.
- Lenzner C, Nürnberg P, Thiele BJ, et al. (1994). "Mutations in the pyruvate kinase L gene in patients with hereditary hemolytic anemia". Blood. 83 (10): 2817–22. PMID 8180378.
- Kanno H, Fujii H, Tsujino G, Miwa S (1993). "Molecular basis of impaired pyruvate kinase isozyme conversion in erythroid cells: a single amino acid substitution near the active site and decreased mRNA content of the R-type PK". Biochem. Biophys. Res. Commun. 192 (1): 46–52. doi:10.1006/bbrc.1993.1379. PMID 8476433.
- Kanno H, Fujii H, Miwa S (1993). "Low substrate affinity of pyruvate kinase variant (PK Sapporo) caused by a single amino acid substitution (426 Arg-->Gln) associated with hereditary hemolytic anemia". Blood. 81 (9): 2439–41. PMID 8481523.
- Baronciani L, Beutler E (1993). "Analysis of pyruvate kinase-deficiency mutations that produce nonspherocytic hemolytic anemia". Proc. Natl. Acad. Sci. U.S.A. 90 (9): 4324–7. doi:10.1073/pnas.90.9.4324. PMC 46499. PMID 8483951.
- Baronciani L, Bianchi P, Zanella A (1996). "Hematologically important mutations: red cell pyruvate kinase". Blood Cells Mol. Dis. 22 (1): 85–9. doi:10.1006/bcmd.1996.0012. PMID 8807089.
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