ABclonal Technology SGOL1 Rabbit pAb
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The protein encoded by this gene is a member of the shugoshin family, believed to protect centromeric cohesin from cleavage during mitotic prophase by preventing phosphorylation of a cohesin subunit. Reduced expression leads to premature loss of centromeric cohesion, sister chromatid mis-segregation, and mitotic arrest. This protein also protects a subset of cohesin on chromosome arms during prophase. An isoform lacking exon 6 plays a role in centriolar cohesion. Mutations in this gene are linked to Chronic Atrial and Intestinal Dysrhythmia (CAID) syndrome, which involves Sick Sinus Syndrome and Chronic Intestinal Pseudo-obstruction. Fibroblasts from CAID patients show increased cell proliferation and higher senescence rates. Pseudogenes of this gene are found on chromosomes 1 and 7, and alternative splicing generates multiple transcript variants.