人 TK2 (NM_001172644) cDNA克隆

Accession: NM_001172644
基因名称: TK2
基因别名: MTTK; MTDPS2
基因描述: Homo sapiens thymidine kinase 2, mitochondrial (TK2), transcript variant 3, mRNA.
种属: Human
CDS区长度: 723 (查看编码区序列)
翻译后氨基酸长度: 240 (查看氨基酸序列)
Transcript Variant: This variant (3) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
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G162063 人 TK2 (NM_001172644) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a deoxyribonucleoside kinase that specifically phosphorylates thymidine, deoxycytidine, and deoxyuridine. The encoded enzyme localizes to the mitochondria and is required for mitochondrial DNA synthesis. Mutations in this gene are associated with a myopathic form of mitochondrial DNA depletion syndrome. Alternate splicing results in multiple transcript variants encoding distinct isoforms, some of which lack transit peptide, so are not localized to mitochondria. [provided by RefSeq, Dec 2012]