这个基因编码的蛋白质是recq dna螺旋酶家族的一员。dna解旋酶是参与多种dna修复的酶,包括错配修复、核苷酸切除修复和直接修复。编码的蛋白参与霍利迪连接的处理,姐妹染色单体交换的抑制,端粒维持,并且是遗传毒性应激抵抗所必需的。这种基因的缺陷与几种癌症有关。[由RefSeq提供,2017年1月]
The protein encoded by this gene is a member of the RecQ DNA helicase family. DNA helicases are enzymes involved in various types of DNA repair, including mismatch repair, nucleotide excision repair and direct repair. The encoded protein is involved in the processing of Holliday junctions, the suppression of sister chromatid exchanges, telomere maintenance, and is required for genotoxic stress resistance. Defects in this gene have been associated with several types of cancer. [provided by RefSeq, Jan 2017]

基因名:RECQL
别名:RecQ1,RECQL1
基因ID:5965
Chromosome:
(GRCh37)
12 Start: 21621844 End: 21654603 Strand: 
信号通路:  
RECQL 基因突变与药物

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