DMPK基因
外觀
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肌強直蛋白-蛋白激酶(MT-PK)又叫肌緊張營養不良蛋白激酶(MDPK)或營養不良肌緊張蛋白激酶(DMPK),在人體是一種由DMPK基因編碼的酶。[6][7]
dmpk基因的產物是一種與MRCK p21-活化的激酶和Rho激酶家族同源的絲氨酸、蘇氨酸蛋白激酶。[8]用檢測DMPK特異亞型的抗體獲得的數據表明DMPK大多數豐富的亞型是幾乎僅僅在平滑肌、骨骼肌和心肌表達的80-kDa蛋白。[9]
參考
[編輯]- ^ 與DMPK基因相關的疾病;在維基數據上查看/編輯參考.
- ^ 2.0 2.1 2.2 GRCh38: Ensembl release 89: ENSG00000104936 - Ensembl, May 2017
- ^ 3.0 3.1 3.2 GRCm38: Ensembl release 89: ENSMUSG00000030409 - 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.
- ^ Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, Jansen G, Neville C, Narang M, Barceló J, O'Hoy K. Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene. Science. March 1992, 255 (5049): 1253–5. Bibcode:1992Sci...255.1253M. PMID 1546325. doi:10.1126/science.1546325.
- ^ Fu YH, Pizzuti A, Fenwick RG, King J, Rajnarayan S, Dunne PW, Dubel J, Nasser GA, Ashizawa T, de Jong P. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science. March 1992, 255 (5049): 1256–8. Bibcode:1992Sci...255.1256F. PMID 1546326. doi:10.1126/science.1546326.
- ^ Amano M, Chihara K, Nakamura N, Kaneko T, Matsuura Y, Kaibuchi K. The COOH terminus of Rho-kinase negatively regulates rho-kinase activity. The Journal of Biological Chemistry. November 1999, 274 (45): 32418–24. PMID 10542285. doi:10.1074/jbc.274.45.32418
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- ^ Lam LT, Pham YC, Nguyen TM, Morris GE. Characterization of a monoclonal antibody panel shows that the myotonic dystrophy protein kinase, DMPK, is expressed almost exclusively in muscle and heart. Human Molecular Genetics. September 2000, 9 (14): 2167–73. PMID 10958655. doi:10.1093/hmg/9.14.2167
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