人 TINF2 (NM_012461) cDNA克隆

Accession: NM_012461
基因名称: TINF2
基因别名: TIN2; DKCA3
基因描述: Homo sapiens TERF1 (TRF1)-interacting nuclear factor 2 (TINF2), transcript variant 2, mRNA.
种属: Human
CDS区长度: 1065 (查看编码区序列)
翻译后氨基酸长度: 354 (查看氨基酸序列)
Transcript Variant: This variant (2) contains additional segments at its 3' end, which results in an early stop codon and a unique 3' UTR, compared to variant 1. It encodes isoform 2, also known as TIN2S, which has a shorter C-terminus when compared to isoform 1.
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G111185 人 TINF2 (NM_012461) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes one of the proteins of the shelterin, or telosome, complex which protects telomeres by allowing the cell to distinguish between telomeres and regions of DNA damage. The protein encoded by this gene is a critical part of shelterin; it interacts with the three DNA-binding proteins of the shelterin complex, and it is important for assembly of the complex. Mutations in this gene cause dyskeratosis congenita (DKC), an inherited bone marrow failure syndrome. [provided by RefSeq, Mar 2010]