人 TMEM70 (NM_001040613) cDNA克隆

Accession: NM_001040613
基因名称: TMEM70
基因别名: MC5DN2
基因描述: Homo sapiens transmembrane protein 70 (TMEM70), transcript variant 2, mRNA.
种属: Human
CDS区长度: 324 (查看编码区序列)
翻译后氨基酸长度: 107 (查看氨基酸序列)
Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform b, which has a shorter and distinct C-terminus, compared to isoform a.
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G155165 人 TMEM70 (NM_001040613) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene likely encodes a mitochondrial membrane protein. The encoded protein may play a role in biogenesis of mitochondrial ATP synthase. Mutations in this gene have been associated with neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]