人 TK2 (NM_001271934) cDNA克隆

Accession: NM_001271934
基因名称: TK2
基因别名: MTTK; MTDPS2
基因描述: Homo sapiens thymidine kinase 2, mitochondrial (TK2), transcript variant 5, mRNA.
种属: Human
CDS区长度: 651 (查看编码区序列)
翻译后氨基酸长度: 216 (查看氨基酸序列)
Transcript Variant: This variant (5) has an additional exon in the 5' region, which results in an alternate translation start codon, compared to variant 1. The encoded isoform (5) is not localized to mitochondria, and it has a distinct N-terminus and is shorter than isoform 1.
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G162066 人 TK2 (NM_001271934) 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]