腺苷脫氨酶
(重定向自腺苷脱氨酶检测)
腺苷脫氨酶(英語:Adenosine deaminase)的是一種參與嘌呤代謝作用的酶。它是用作拆解食物組織中的核酸中的腺苷。在人體中,它主要參與了免疫細胞的製造。若該酶突變,會造成T細胞、B細胞及自然殺手細胞皆無法表現的嚴重複合型免疫缺乏症(SCID)。
Adenosine/AMP deaminase | |||||||||
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crystal structure of plasmodium yoelii adenosine deaminase (py02076) | |||||||||
鑑定 | |||||||||
標誌 | A_deaminase | ||||||||
Pfam | PF00962(旧版) | ||||||||
Pfam宗系 | CL0034(旧版) | ||||||||
InterPro | IPR001365 | ||||||||
PROSITE | PDOC00419 | ||||||||
SCOP | 1add / SUPFAM | ||||||||
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Adenosine deaminase (editase) domain | |||||||||
---|---|---|---|---|---|---|---|---|---|
鑑定 | |||||||||
標誌 | A_deamin | ||||||||
Pfam | PF02137(旧版) | ||||||||
InterPro | IPR002466 | ||||||||
PROSITE | PDOC00419 | ||||||||
SCOP | 1add / SUPFAM | ||||||||
|
Adenosine/AMP deaminase N-terminal | |||||||||
---|---|---|---|---|---|---|---|---|---|
鑑定 | |||||||||
標誌 | A_deaminase_N | ||||||||
Pfam | PF08451(旧版) | ||||||||
InterPro | IPR013659 | ||||||||
|
反應编辑
病理學编辑
腺苷脫氨酶的突變基因使之不容易被表達,這是一些嚴重複合型免疫缺乏症(SCID)的原因。基因突變令ADA被過度產生是溶血性貧血原因之一。有一些證據表明,一個不同的等位基因(ADA2)可能會導致自閉症。
ADA活性異常與多種疾病相關,如當人體發生結核桿菌侵襲時,人體主要啓動細胞免疫,T淋巴細胞和單核巨噬細胞被分枝桿菌激活可引起ADA的活性增強,且間皮細胞吞噬分枝桿菌後產生的特異性細胞因子亦誘導ADA的活性增強。
参考文献编辑
深入阅读编辑
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- Berkvens TM, van Ormondt H, Gerritsen EJ; et al. Identical 3250-bp deletion between two AluI repeats in the ADA genes of unrelated ADA-SCID patients. Genomics. 1990, 7 (4): 486–90. PMID 1696926. doi:10.1016/0888-7543(90)90190-6.
- Aran JM, Colomer D, Matutes E; et al. Presence of adenosine deaminase on the surface of mononuclear blood cells: immunochemical localization using light and electron microscopy. J. Histochem. Cytochem. 1991, 39 (8): 1001–8. PMID 1856451.
- Bielat K, Tritsch GL. Ecto-enzyme activity of human erythrocyte adenosine deaminase. Mol. Cell. Biochem. 1989, 86 (2): 135–42. PMID 2770711. doi:10.1007/BF00222613.
- Hirschhorn R, Tzall S, Ellenbogen A, Orkin SH. Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency. J. Clin. Invest. 1989, 83 (2): 497–501. PMC 303706 . PMID 2783588. doi:10.1172/JCI113909.
- Murray JL, Perez-Soler R, Bywaters D, Hersh EM. Decreased adenosine deaminase (ADA) and 5'nucleotidase (5NT) activity in peripheral blood T cells in Hodgkin disease. Am. J. Hematol. 1986, 21 (1): 57–66. PMID 3010705. doi:10.1002/ajh.2830210108.
- Wiginton DA, Kaplan DJ, States JC; et al. Complete sequence and structure of the gene for human adenosine deaminase. Biochemistry. 1987, 25 (25): 8234–44. PMID 3028473. doi:10.1021/bi00373a017.
- Akeson AL, Wiginton DA, Dusing MR; et al. Mutant human adenosine deaminase alleles and their expression by transfection into fibroblasts. J. Biol. Chem. 1988, 263 (31): 16291–6. PMID 3182793.
- Glader BE, Backer K. Elevated red cell adenosine deaminase activity: a marker of disordered erythropoiesis in Diamond-Blackfan anaemia and other haematologic diseases. Br. J. Haematol. 1988, 68 (2): 165–8. PMID 3348976. doi:10.1111/j.1365-2141.1988.tb06184.x.
- Petersen MB, Tranebjaerg L, Tommerup N; et al. New assignment of the adenosine deaminase gene locus to chromosome 20q13 X 11 by study of a patient with interstitial deletion 20q. J. Med. Genet. 1987, 24 (2): 93–6. PMC 1049896 . PMID 3560174. doi:10.1136/jmg.24.2.93.
- Orkin SH, Goff SC, Kelley WN, Daddona PE. Transient expression of human adenosine deaminase cDNAs: identification of a nonfunctional clone resulting from a single amino acid substitution. Mol. Cell. Biol. 1985, 5 (4): 762–7. PMC 366780 . PMID 3838797.
- Valerio D, Duyvesteyn MG, Dekker BM; et al. Adenosine deaminase: characterization and expression of a gene with a remarkable promoter. EMBO J. 1985, 4 (2): 437–43. PMC 554205 . PMID 3839456.
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- Daddona PE, Shewach DS, Kelley WN; et al. Human adenosine deaminase. cDNA and complete primary amino acid sequence. J. Biol. Chem. 1984, 259 (19): 12101–6. PMID 6090454.
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