SMC1A structural maintenance of chromosomes 1A
Gene ID: 8243, updated on 3-Nov-2024Gene type: protein coding
Also known as: SMC1; SMCB; CDLS2; DEE85; SB1.8; EIEE85; SMC1L1; DXS423E; SMC1alpha
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]
Associated conditions
| Description | Tests |
|---|---|
| Congenital muscular hypertrophy-cerebral syndrome | not available |
| Developmental and epileptic encephalopathy, 85, with or without midline brain defects | not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2018-07-23) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2018-07-23) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- Xp11.22
- Sequence:
- Chromosome: X; NC_000023.11 (53374149..53422728, complement)
- Total number of exons:
- 26
Variation
| Resource | Links for this gene |
|---|---|
| SNP | Variation Viewer for SMC1A variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
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