人 TK2 (NM_001271935) cDNA克隆

Accession: NM_001271935
基因名称: TK2
基因别名: MTTK; MTDPS2
基因描述: Homo sapiens thymidine kinase 2, mitochondrial (TK2), transcript variant 6, mRNA.
种属: Human
CDS区长度: 441 (查看编码区序列)
翻译后氨基酸长度: 146 (查看氨基酸序列)
Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region and two internal exons, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (6) is not localized to mitochondria, and it has a distinct N-terminus, lacks an internal segment and is shorter than isoform 1.
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G162067 人 TK2 (NM_001271935) 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]