人 NDUFA12 (NM_001258338) cDNA克隆

Accession: NM_001258338
基因名称: NDUFA12
基因别名: B17.2; DAP13
基因描述: Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 (NDUFA12), transcript variant 2, mRNA.
种属: Human
CDS区长度: 192 (查看编码区序列)
翻译后氨基酸长度: 63 (查看氨基酸序列)
Transcript Variant: This variant (2) lacks an alternate exon which results in a frameshift and an early stop codon compared to variant 1. The resulting protein (isoform b) is shorter and has a distinct C-terminus compared to isoform a.
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G100256 人 NDUFA12 (NM_001258338) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a protein which is part of mitochondrial complex 1, part of the oxidative phosphorylation system in mitochondria. Complex 1 transfers electrons to ubiquinone from NADH which establishes a proton gradient for the generation of ATP. Mutations in this gene are associated with Leigh syndrome due to mitochondrial complex 1 deficiency. Pseudogenes of this gene are located on chromosomes 5 and 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]