NMNAT1

NMNAT1是煙醯胺單核苷酸腺苷轉移酶1，是煙醯胺腺嘌呤二核苷酸生物合成中一種關鍵的酶，在人類中由NMNAT1基因編碼^[1]。除了脾臟，NMNAT1在人體其他組織器官中均有表達^[2]。小鼠中NMNAT1基因的缺失導致胚胎期死亡^[3]。

NMNAT1基因的突變可導致萊伯先天性黑蒙症。一些患者具有特異性的黃斑退化症狀。^[4]

引用

^ GeneCards: NMNAT1 nicotinamide nucleotide adenylyltransferase 1. [2013-08-30]. （原始內容存檔於2013-08-16）.
^ 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.
^ 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.
^ 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  . PMID 22842230. doi:10.1038/ng.2356.

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