人 RTEL1 (NM_032957) cDNA克隆

Accession: NM_032957
基因名称: RTEL1
基因别名: NHL; RTEL; DKCA4; DKCB5; C20orf41
基因描述: Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 2, mRNA.
种属: Human
CDS区长度: 3732 (查看编码区序列)
翻译后氨基酸长度: 1243 (查看氨基酸序列)
Transcript Variant: This variant (2) has multiple differences in the coding region, compared to variant 3, one of which results in a translational frameshift. The encoded protein (isoform 2) has a distinct C-terminus and is shorter than isoform 3.
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G154070 人 RTEL1 (NM_032957) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a DNA helicase which functions in the stability, protection and elongation of telomeres and interacts with proteins in the shelterin complex known to protect telomeres during DNA replication. Mutations in this gene have been associated with dyskeratosis congenita and Hoyerall-Hreidarsson syndrome. Read-through transcription of this gene into the neighboring downstream gene, which encodes tumor necrosis factor receptor superfamily, member 6b, generates a non-coding transcript. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]