人 NDUFA2 (NM_001185012) cDNA克隆

Accession: NM_001185012
基因名称: NDUFA2
基因别名: B8; CD14; CIB8
基因描述: Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa (NDUFA2), transcript variant 2, mRNA.
种属: Human
CDS区长度: 231 (查看编码区序列)
翻译后氨基酸长度: 76 (查看氨基酸序列)
Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 1. This results in a protein with a shorter and distinct C-terminus (isoform 2), compared to isoform 1. It is unknown if isoform 2 is located to the mitochondria and/or if it is functional.
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G114407 人 NDUFA2 (NM_001185012) cDNA克隆 pDONR223 2ug质粒 点击询价

The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex 1), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane, and may be involved in regulating complex I activity or its assembly via assistance in redox processes. Mutations in this gene are associated with Leigh syndrome, an early-onset progressive neurodegenerative disorder. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]