NMNAT1

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NMNAT1是烟酰胺单核苷酸腺苷转移酶1，是烟酰胺腺嘌呤二核苷酸生物合成中一种关键的酶，在人类中由NMNAT1基因编码[1]。除了脾脏，NMNAT1在人体其他组织器官中均有表达[2]。小鼠中NMNAT1基因的缺失导致胚胎期死亡[3]。

NMNAT1基因的突变可导致莱伯先天性黑蒙症。一些患者具有特异性的黄斑退化症状。[4]

引用[编辑]

  1. ^ GeneCards: NMNAT1 nicotinamide nucleotide adenylyltransferase 1. [2013-08-30]. （原始内容存档于2013-08-16）. 
  2. ^ Zhai RG, Rizzi M, Garavaglia S. Nicotinamide/nicotinic acid mononucleotide adenylyltransferase, new insights into an ancient enzyme. Cell Mol Life Sci. Sep 2009, 66 (17): 2805–18. PMID 19448972. 
  3. ^ Conforti L, Janeckova L, Wagner D, Mazzola F, Cialabrini L, Di Stefano M, Orsomando G, Magni G, Bendotti C, Smyth N, Coleman M. Reducing expression of NAD+ synthesizing enzyme NMNAT1 does not affect the rate of Wallerian degeneration. FEBS J. Aug 2011, 278 (15): 2666–79. PMID 21615689. 
  4. ^ Koenekoop RK, Wang H, Majewski J, Wang X, Lopez I, Ren H, Chen Y, Li Y, Fishman GA, Genead M, Schwartzentruber J, Solanki N, Traboulsi EI, Cheng J, Logan CV, McKibbin M, Hayward BE, Parry DA, Johnson CA, Nageeb M, Poulter JA, Mohamed MD, Jafri H, Rashid Y, Taylor GR, Keser V, Mardon G, Xu H, Inglehearn CF, Fu Q, Toomes C, Chen R, Finding of Rare Disease Genes (FORGE) Canada, Consortium. Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. Nat. Genet. September 2012, 44 (9): 1035–9. PMC 3657614 可免费查阅. PMID 22842230. doi:10.1038/ng.2356. 
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