Q14683

SMC1 also known as SMC1α, SMC1A is a crucial 1,233 amino acid nuclear protein that plays a vital role in maintaining chromosome cohesion during the cell cycle. SMC1 is a key component of the cohesion complex, which is essential for the proper alignment and separation of sister chromatids following DNA replication. SMC1′s importance extends beyond its structural role; SMC1 interacts with BRCA1 and is phosphorylated by ATM, highlighting SMC1′s involvement in DNA repair mechanisms. Mutations in the gene encoding SMC1 have been linked to Cornelia de Lange syndrome (CdLS), a developmental disorder characterized by facial dysmorphia, upper limb malformations, and cognitive impairments.