RAD54B基因突变因子与药物介绍
该基因编码的蛋白质属于类死亡螺旋酶超家族它与酿酒酵母rad54和rdh54具有相似性，两者都参与dna的同源重组和修复。这种蛋白质与双链dna结合，在dna存在下显示atpase活性。该基因在睾丸和脾脏中高度表达，提示其在减数分裂和有丝分裂重组中具有重要作用在原发性淋巴瘤和结肠癌中观察到该基因的纯合突变[由RefSeq提供，2008年7月]
The protein encoded by this gene belongs to the DEAD-like helicase superfamily. It shares similarity with Saccharomyces cerevisiae RAD54 and RDH54, both of which are involved in homologous recombination and repair of DNA. This protein binds to double-stranded DNA, and displays ATPase activity in the presence of DNA. This gene is highly expressed in testis and spleen, which suggests active roles in meiotic and mitotic recombination. Homozygous mutations of this gene were observed in primary lymphoma and colon cancer. [provided by RefSeq, Jul 2008]
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