PFKM
۶-فسفوفروکتوکیناز، ماهیچه (انگلیسی: 6-phosphofructokinase, muscle type) یک آنزیم است که در انسان توسط ژن «PFKM» واقع بر کروموزوم ۱۵ کُدگذاری میشود. آنزیمهای گروه فسفوفروکتوکیناز، بهطور غیرقابل بازگشت، موجب تبدیل فروکتوز ۶-فسفات به فروکتوز ۱٬۶-بیسفسفات شده و یکی از آنزیمهای تنظیمی مهم در فرایند گلیکولیز محسوب میشوند. چندین فرم مختلف از این آنزیم وجود دارد که در اثر پیرایش دگرسان ایجاد میشوند.[۴]
افزایش بیان ژن PFKM با بروز دیابت نوع ۲ و مقاومت به انسولین در ماهیچههای اسکلتی در ارتباط است.
جستارهای وابسته
منابع
- ↑ ۱٫۰ ۱٫۱ ۱٫۲ GRCm38: Ensembl release 89: ENSMUSG00000033065 – 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.
- ↑ "Entrez Gene: PFKM phosphofructokinase, muscle".
- مشارکتکنندگان ویکیپدیا. «PFKM». در دانشنامهٔ ویکیپدیای انگلیسی، بازبینیشده در ۲۱ اکتبر ۲۰۱۸.
بیشتر بخوانید
- Raben N, Sherman JB (1995). "Mutations in muscle phosphofructokinase gene". Human Mutation. 6 (1): 1–6. doi:10.1002/humu.1380060102. PMID 7550225.
- Kahn A, Etiemble J, Meienhofer MC, Bovin P (Jun 1975). "Erythrocyte phosphofructokinase deficiency associated with an unstable variant of muscle phosphofructokinase". Clinica Chimica Acta; International Journal of Clinical Chemistry. 61 (3): 415–9. doi:10.1016/0009-8981(75)90434-9. PMID 125160.
- Zhao ZZ, Malencik DA, Anderson SR (Feb 1991). "Protein-induced inactivation and phosphorylation of rabbit muscle phosphofructokinase". Biochemistry. 30 (8): 2204–16. doi:10.1021/bi00222a026. PMID 1825608.
- Yamasaki T, Nakajima H, Kono N, Hotta K, Yamada K, Imai E, Kuwajima M, Noguchi T, Tanaka T, Tarui S (Aug 1991). "Structure of the entire human muscle phosphofructokinase-encoding gene: a two-promoter system". Gene. 104 (2): 277–82. doi:10.1016/0378-1119(91)90262-A. PMID 1833270.
- Sharma PM, Reddy GR, Babior BM, McLachlan A (Jun 1990). "Alternative splicing of the transcript encoding the human muscle isoenzyme of phosphofructokinase". The Journal of Biological Chemistry. 265 (16): 9006–10. PMID 2140567.
- Nakajima H, Kono N, Yamasaki T, Hotta K, Kawachi M, Kuwajima M, Noguchi T, Tanaka T, Tarui S (Jun 1990). "Genetic defect in muscle phosphofructokinase deficiency. Abnormal splicing of the muscle phosphofructokinase gene due to a point mutation at the 5'-splice site". The Journal of Biological Chemistry. 265 (16): 9392–5. PMID 2140573.
- Valdez BC, Chen Z, Sosa MG, Younathan ES, Chang SH (Mar 1989). "Human 6-phosphofructo-1-kinase gene has an additional intron upstream of start codon". Gene. 76 (1): 167–9. doi:10.1016/0378-1119(89)90019-X. PMID 2526044.
- Sharma PM, Reddy GR, Vora S, Babior BM, McLachlan A (Apr 1989). "Cloning and expression of a human muscle phosphofructokinase cDNA". Gene. 77 (1): 177–83. doi:10.1016/0378-1119(89)90372-7. PMID 2526045.
- Nakajima H, Noguchi T, Yamasaki T, Kono N, Tanaka T, Tarui S (Oct 1987). "Cloning of human muscle phosphofructokinase cDNA". FEBS Letters. 223 (1): 113–6. doi:10.1016/0014-5793(87)80519-7. PMID 2822475.
- Vora S, Seaman C, Durham S, Piomelli S (Jan 1980). "Isozymes of human phosphofructokinase: identification and subunit structural characterization of a new system". Proceedings of the National Academy of Sciences of the United States of America. 77 (1): 62–6. doi:10.1073/pnas.77.1.62. PMC 348208. PMID 6444721.
- Kahn A, Weil D, Cottreau D, Dreyfus JC (Feb 1981). "Muscle phosphofructokinase deficiency in man: expression of the defect in blood cells and cultured fibroblasts". Annals of Human Genetics. 45 (Pt 1): 5–14. doi:10.1111/j.1469-1809.1981.tb00300.x. PMID 6459054.
- Vasconcelos O, Sivakumar K, Dalakas MC, Quezado M, Nagle J, Leon-Monzon M, Dubnick M, Gajdusek DC, Goldfarb LG (Oct 1995). "Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease". Proceedings of the National Academy of Sciences of the United States of America. 92 (22): 10322–6. doi:10.1073/pnas.92.22.10322. PMC 40788. PMID 7479776.
- Tsujino S, Servidei S, Tonin P, Shanske S, Azan G, DiMauro S (May 1994). "Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency". American Journal of Human Genetics. 54 (5): 812–9. PMC 1918246. PMID 7513946.
- Raben N, Exelbert R, Spiegel R, Sherman JB, Nakajima H, Plotz P, Heinisch J (Jan 1995). "Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency". American Journal of Human Genetics. 56 (1): 131–41. PMC 1801305. PMID 7825568.
- Raben N, Sherman J, Miller F, Mena H, Plotz P (Mar 1993). "A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease)". The Journal of Biological Chemistry. 268 (7): 4963–7. PMID 8444874.
- Howard TD, Akots G, Bowden DW (May 1996). "Physical and genetic mapping of the muscle phosphofructokinase gene (PFKM): reassignment to human chromosome 12q". Genomics. 34 (1): 122–7. doi:10.1006/geno.1996.0250. PMID 8661033.
- Hamaguchi T, Nakajima H, Noguchi T, Nakagawa C, Kuwajima M, Kono N, Tarui S, Matsuzawa Y (1997). "Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII". Human Mutation. 8 (3): 273–5. doi:10.1002/(SICI)1098-1004(1996)8:3<273::AID-HUMU13>3.0.CO;2-#. PMID 8889589.
- Scherer PE, Lisanti MP (Aug 1997). "Association of phosphofructokinase-M with caveolin-3 in differentiated skeletal myotubes. Dynamic regulation by extracellular glucose and intracellular metabolites". The Journal of Biological Chemistry. 272 (33): 20698–705. doi:10.1074/jbc.272.33.20698. PMID 9252390.
{{cite journal}}: نگهداری یادکرد:doi رایگان بینشان (رده) - Ristow M, Vorgerd M, Möhlig M, Schatz H, Pfeiffer A (Dec 1997). "Deficiency of phosphofructo-1-kinase/muscle subtype in humans impairs insulin secretion and causes insulin resistance". The Journal of Clinical Investigation. 100 (11): 2833–41. doi:10.1172/JCI119831. PMC 508489. PMID 9389749.
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