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NT5E — разлика између измена

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5'-nucleotidase ecto
Identifikatori
Alijasi
Spoljašnji IDGeneCards: [1]
Ortolozi
VrsteČovekMiš
Entrez
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RefSeq (mRNA)

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5'-nukleotidaza (5'-NT), poznata i kao ekto-5'-nukleotidaza ili CD73 (klaster diferencijacije 73), je enzim koji je kod ljudi kodiran NT5E genom.[1] CD73 konvertuje AMP u adenozin.

Funkcija

Ekto-5-prajm-nukleotidaza (5-prajm-ribonukleotidna fosfohidrolaza; EC 3.1.3.5) catalyzes the conversion at neutral pH of purine 5-prime mononucleotides to nucleosides, the preferred substrate being AMP. The enzyme consists of a dimer of 2 identical 70-kD subunits bound by a glycosyl phosphatidyl inositol linkage to the external face of the plasma membrane. The enzyme is used as a marker of lymphocyte differentiation. Consequently, a deficiency of NT5 occurs in a variety of immunodeficiency diseases (e.g., see MIM 102700, MIM 300300). Other forms of 5-prime nucleotidase exist in the cytoplasm and lysosomes and can be distinguished from ecto-NT5 by their substrate affinities, requirement for divalent magnesium ion, activation by ATP, and inhibition by inorganic phosphate.[2] Rare allelic variants are associated with a syndrome of adult-onset calcification of joints and arteries (CALJA) affecting the iliac, femoral, and tibial arteries reducing circulation in the legs and the joints of the hands and feet causing pain.[3][4][5]

Vidi još

Reference

  1. ^ Misumi Y, Ogata S, Ohkubo K, Hirose S, Ikehara Y (1990). „Primary structure of human placental 5'-nucleotidase and identification of the glycolipid anchor in the mature form”. Eur. J. Biochem. 191 (3): 563—9. PMID 2129526. doi:10.1111/j.1432-1033.1990.tb19158.x. 
  2. ^ „Entrez Gene: NT5E 5'-nucleotidase, ecto (CD73)”. 
  3. ^ St. Hilaire, Cynthia; Ziegler, Shira G.; Markello, Thomas C.; Brusco, Alfredo; Groden, Catherine; Gill, Fred; Carlson-Donohoe, Hannah; Lederman, Robert J.; Chen, Marcus Y.; Yang, Dan; Siegenthaler, Michael P.; Arduino, Carlo; Mancini, Cecilia; Freudenthal, Bernard; Stanescu, Horia C.; Zdebik, Anselm A.; Chaganti, R. Krishna; Nussbaum, Robert L.; Kleta, Robert; Gahl, William A.; Boehm, Manfred (2011). „NT5EMutations and Arterial Calcifications”. New England Journal of Medicine. 364 (5): 432—442. ISSN 0028-4793. PMC 3049958Слободан приступ. PMID 21288095. doi:10.1056/NEJMoa0912923. 
  4. ^ Sharp, J. (1954). „Heredo-familial vascular and articular calcification”. Ann. Rheum. Dis. 13 (1): 15—27. PMC 1030367Слободан приступ. PMID 13149051. doi:10.1136/ard.13.1.15. 
  5. ^ Online Mendelovsko nasleđivanje kod čoveka (OMIM) 211800

Literatura

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