人 BLM (NM_001287247) cDNA克隆

Accession: NM_001287247
基因名称: BLM
基因别名: BS; RECQ2; RECQL2; RECQL3
基因描述: Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), transcript variant 3, mRNA.
种属: Human
CDS区长度: 3861 (查看编码区序列)
翻译后氨基酸长度: 1286 (查看氨基酸序列)
Transcript Variant: This variant (3) lacks two alternate in-frame exons in the 3' coding region compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
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G157734 人 BLM (NM_001287247) cDNA克隆 pDONR223 2ug质粒 点击询价

The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq, Jul 2008]