SMC1 [SN20-27] Antibody

The SMC (structural maintenance of chromosomes) family of proteins form heterodimeric complexes that modulate sister chromatid cohesion and chromosome condensation for mitosis. SMC1α (structural maintenance of chromosomes protein 1A), also known as SMC1, SMCB, CDLS2, SB1.8, SMC1L1 or DXS423E, is a 1,233 amino acid nuclear protein that is involved in chromosome cohesion during the cell cycle. SMC1α interacts with BRCA1 and is phosphorylated by ATM, indicating a potential role in DNA repair. SMC1α is a component of the cohesion complex, which is required for the cohesion of sister chromatids after DNA replication. Mutations in the gene encoding SMC1α may be the cause of Cornelia de Lange syndrome (CdLS), which is a clinically heterogeneous developmental disorder characterized by facial dysmorphia, upper limb malformations, growth and cognitive retardation.