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CDLS2

Chr XXLD

structural maintenance of chromosomes 1A

Also known as: CDLS2, DEE85, DXS423E, EIEE85, SB1.8, SMC1, SMC1L1, SMC1alpha

NCBI Gene: 8243 OMIM: 300590

SMC1A encodes a structural maintenance of chromosomes protein that forms part of the cohesin complex required for sister chromatid cohesion during cell division and functions in DNA repair through interactions with BRCA1. Mutations cause Cornelia de Lange syndrome 2, a multisystem developmental disorder with X-linked dominant inheritance. This gene escapes X-inactivation, which explains why both males and females can be affected.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM

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]

GeneReviews OMIM ResearchGenerating clinical summary…