The protein encoded by this gene is a member of the shugoshin family of proteins. This protein is thought to protect centromeric cohesin from cleavage during mitotic prophase by preventing phosphorylation of a cohesin subunit. Reduced expression of this gene leads to the premature loss of centromeric cohesion, mis-segregation of sister chromatids, and mitotic arrest. Evidence suggests that this protein also protects a small subset of cohesin found along the length of the chromosome arms during mitotic prophase. An isoform lacking exon 6 has been shown to play a role in the cohesion of centrioles. Mutations in this gene have been associated with Chronic Atrial and Intestinal Dysrhythmia (CAID) syndrome, characterized by the co-occurrence of Sick Sinus Syndrome (SSS) and Chronic Intestinal Pseudo-obstruction (CIPO) within the first four decades of life. Fibroblast cells from CAID patients exhibited both increased cell proliferation and higher rates of senescence. Pseudogenes of this gene have been found on chromosomes 1 and 7. Alternative splicing results in multiple transcript variants.
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Protein Aliases: hSgo1; Serologically defined breast cancer antigen NY-BR-85; Shugoshin 1; shugoshin 1A protein; shugoshin 1AB protein; shugoshin 1CD protein; shugoshin 1EF protein; shugoshin 1GH protein; shugoshin 1KL protein; Shugoshin-like 1; shugoshin-like 1 (S. pombe)
Gene Aliases: 3300001M08Rik; C81037; CAID; NY-BR-85; SGO; SGO1; SGOL1
Molecular Function: centromere DNA-binding protein