人类线粒体NADH：氧化还原酶10 kDa基因（NDUFV3）的分子克隆与特性分析
Molecular cloning and characterization of the human mitochondrial NADH:oxidoreductase 10-kDa gene (NDUFV3).
作者信息
de Coo R F, Buddiger P, Smeets H J, van Oost B A
机构信息
Department of Human Genetics, University Hospital Nijmegen, Nijmegen, 6500 HB, The Netherlands.
出版信息
Genomics. 1997 Oct 15;45(2):434-7. doi: 10.1006/geno.1997.4930.
The human gene for the 10-kDa flavoprotein subunit of the mitochondrial NADH:ubiquinone oxidoreductase (Complex I) was completely cloned and sequenced. The so-called NDUFV3 gene contains three exons, spanning 20 kb. The open reading frame contains a 34-codon import sequence and a 74-codon mature protein sequence. A database search revealed close homology to bovine and rat protein sequence but not to any other known protein. Northern blot analysis showed that the NDUFV3 gene is ubiquitously expressed. The NDUFV3 gene was assigned by FISH to a single location on chromosome 21q22.3 and might contribute to the Down syndrome phenotype.
线粒体烟酰胺腺嘌呤二核苷酸（NADH）：泛醌氧化还原酶（复合体I）10 kDa黄素蛋白亚基的人类基因已被完全克隆并测序。所谓的NDUFV3基因包含三个外显子，跨度为20 kb。开放阅读框包含一个34密码子的导入序列和一个74密码子的成熟蛋白序列。数据库搜索显示，它与牛和大鼠的蛋白质序列有密切的同源性，但与任何其他已知蛋白质没有同源性。Northern印迹分析表明，NDUFV3基因在各处均有表达。通过荧光原位杂交（FISH）将NDUFV3基因定位到21号染色体22.3区的一个单一位置，它可能与唐氏综合征的表型有关。
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