NCBI Summary:
Proper cohesion of sister chromatids is a prerequisite for the correct segregation of chromosomes during cell division. The cohesin multiprotein complex is required for sister chromatid cohesion. This complex is composed partly of two structural maintenance of chromosomes (SMC) proteins, SMC3 and either SMC1B or the protein encoded by this gene. Most of the cohesin complexes dissociate from the chromosomes before mitosis, although those complexes at the kinetochore remain. Therefore, the encoded protein is thought to be an important part of functional kinetochores. In addition, this protein interacts with BRCA1 and is phosphorylated by ATM, indicating a potential role for this protein in DNA repair. This gene, which belongs to the SMC gene family, is located in an area of the X-chromosome that escapes X inactivation. Mutations in this gene result in Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
General function
Chromosome organization
Comment
Cellular localization
Cytoplasmic, Nuclear
Comment
Ovarian function
Oocyte maturation
Comment
Aging (not so) gracefully.Bickel SE. .
Although the correlation between maternal age and meiotic nondisjunction in human oocytes is widely recognized, the underlying molecular defects are largely unknown. New evidence from mice lacking SMC1beta suggests that high levels of chromosome mis-segregation in older oocytes may be due in part to deterioration of meiotic sister-chromatid cohesion during aging.