RecQL1 Anticuerpo(A-9): sc-166388

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In humans, the RecQ helicase family includes WRN, BLM, RecQL1, RecQL4 and RecQL5 proteins, all of which contain a conserved helicase domain. WRN and BLM have been demonstrated to be the responsible genes in Werner and Bloom syndromes, respectively. RecQL1 and RecQL5 also belong to the human RecQ helicase family, but their correlation with genetic disorders, if any, is unknown. The gene encoding human RecQL4, which maps to chromosome 8q24.3, is believed to be the gene responsible for the development of Rothmund-Thomson syndrome (RTS). The levels of WRN, BLM, RecQL1, 4 and 5 are differentially upregulated to guarantee genomic stability in cells that are transformed or actively proliferating. In humans, RecQL1 and RecQL5 map to chromosome 12p12.1 and 17q25.1, respectively.