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RECQL4基因突变因子与药物介绍

2022.8.03
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zhaoqisun

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这个基因编码的蛋白质是属于recq螺旋酶家族的dna螺旋酶。dna解旋酶将双链dna解聚成单链dna,并可能调节染色体分离。该基因主要在胸腺和睾丸中表达。该基因突变与Rothmund-Thomson、Rapadilino和Baller-Gerold综合征有关。[由RefSeq提供,2010年1月]
The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq, Jan 2010]

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