Aliases for SMC3 Gene
External Ids for SMC3 Gene
Previous HGNC Symbols for SMC3 Gene
Previous GeneCards Identifiers for SMC3 Gene
This gene belongs to the SMC3 subfamily of SMC proteins. The encoded protein occurs in certain cell types as either an intracellular, nuclear protein or a secreted protein. The nuclear form, known as structural maintenance of chromosomes 3, is a component of the multimeric cohesin complex that holds together sister chromatids during mitosis, enabling proper chromosome segregation. Post-translational modification of the encoded protein by the addition of chondroitin sulfate chains gives rise to the secreted proteoglycan bamacan, an abundant basement membrane protein. [provided by RefSeq, Jul 2008]
GeneCards Summary for SMC3 Gene
SMC3 (Structural Maintenance Of Chromosomes 3) is a Protein Coding gene. Diseases associated with SMC3 include Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects and Wiedemann-Steiner Syndrome. Among its related pathways are ATM Pathway and Cell cycle_Spindle assembly and chromosome separation. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and microtubule motor activity. An important paralog of this gene is SMC1A.
UniProtKB/Swiss-Prot Summary for SMC3 Gene
Central component of cohesin, a complex required for chromosome cohesion during the cell cycle. The cohesin complex may form a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. Cohesion is coupled to DNA replication and is involved in DNA repair. The cohesin complex plays also an important role in spindle pole assembly during mitosis and in chromosomes movement.