人 NDUFAF3 (NM_199074) cDNA克隆

Accession: NM_199074
基因名称: NDUFAF3
基因别名: 2P1; E3-3; C3orf60
基因描述: Homo sapiens NADH dehydrogenase (ubiquinone) complex I, assembly factor 3 (NDUFAF3), transcript variant 4, mRNA.
种属: Human
CDS区长度: 384 (查看编码区序列)
翻译后氨基酸长度: 127 (查看氨基酸序列)
Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform a. Variants 2, 3 and 4 encode the same isoform.
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G107952 人 NDUFAF3 (NM_199074) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a mitochondrial complex I assembly protein that interacts with complex I subunits. Mutations in this gene cause mitochondrial complex I deficiency, a fatal neonatal disorder of the oxidative phosphorylation system. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2009]