人 TRMU (NM_001282785) cDNA克隆

Accession: NM_001282785
基因名称: TRMU
基因别名: MTO2; MTU1; TRMT; TRMT1; TRNT1
基因描述: Homo sapiens tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU), transcript variant 7, mRNA.
种属: Human
CDS区长度: 1131 (查看编码区序列)
翻译后氨基酸长度: 376 (查看氨基酸序列)
Transcript Variant: This variant (7) lacks an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (g) is shorter and has a distinct C-terminus, compared to isoform a.
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G120745 人 TRMU (NM_001282785) cDNA克隆 pDONR223 2ug质粒 点击询价

This nuclear gene encodes a mitochondrial tRNA-modifying enzyme. The encoded protein catalyzes the 2-thiolation of uridine on the wobble positions of tRNA(Lys), tRNA(Glu), and tRNA(Gln), resulting in the formation of 5-taurinomethyl-2-thiouridine moieties. Mutations in this gene may cause transient infantile liver failure. Polymorphisms in this gene may also influence the severity of deafness caused by mitochondrial 12S ribosomal RNA mutations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]