SMC1A Chromosome X
Structural maintenance of chromosomes 1A
Upload your DNA to see your personal genotypes for variants in SMC1A.
What This Gene Does
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]
Gene Info
Gene Group
"Structural maintenance of chromosomes proteins|Cohesin complex|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
Xp11.22
Ensembl
ENSG00000072501
Associated Conditions (23)
Congenital muscular hypertrophy-cerebral syndrome
History of neurodevelopmental disorder
Developmental and epileptic encephalopathy
85
with or without midline brain defects
Inborn genetic diseases
Uterine corpus endometrial carcinoma
Thyroid cancer
nonmedullary
1
Abnormality of the nervous system
Cornelia de Lange syndrome 1
Posterior fossa group A ependymoma
Nonpapillary renal cell carcinoma
Epileptic encephalopathy
SMC1A-related cohesinopathy
SMC1A-related disorder
See cases
Seizure
6 conditions
+3 more conditions
Key Variants
RS1007398058
Conflicting classifications of pathogenicity
Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
Health Risk
RS1057521921
Conflicting classifications of pathogenicity
Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
Health Risk
RS112727682
Conflicting classifications of pathogenicity
History of neurodevelopmental disorder, History of neurodevelopmental disorder
Health Risk
RS1171109209
Conflicting classifications of pathogenicity
Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy, 85
Health Risk
RS1312716558
Conflicting classifications of pathogenicity
Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
Health Risk
RS144354524
Conflicting classifications of pathogenicity
Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
Health Risk
RS1444762600
Conflicting classifications of pathogenicity
Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
Health Risk
RS147791932
Conflicting classifications of pathogenicity
Congenital muscular hypertrophy-cerebral syndrome, Inborn genetic diseases, Congenital muscular hypertrophy-cerebral syndrome
Health Risk
RS1556891104
Conflicting classifications of pathogenicity
Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
Health Risk
RS1602413408
Conflicting classifications of pathogenicity
Health Risk
RS183355603
Conflicting classifications of pathogenicity
Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
Health Risk
RS186510389
Conflicting classifications of pathogenicity
Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
Health Risk
All Variants (225)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2146593421 | Health Risk | Pathogenic | Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome |
| RS2146595540 | Health Risk | Pathogenic | Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome |
| RS2146598241 | Health Risk | Pathogenic | Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome |
| RS2146598316 | Health Risk | Pathogenic | Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome |
| RS2146599304 | Health Risk | Pathogenic | Congenital muscular hypertrophy-cerebral syndrome, Epileptic encephalopathy, Congenital muscular hypertrophy-cerebral syndrome |
| RS2146599324 | Health Risk | Pathogenic | Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome |
| RS2146599339 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 85, with or without midline brain defects |
| RS2146599361 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 85, with or without midline brain defects |
| RS2146599371 | Health Risk | Pathogenic | — |
| RS2146599539 | Health Risk | Pathogenic | SMC1A-related cohesinopathy, SMC1A-related cohesinopathy |
| RS2146599783 | Health Risk | Pathogenic | — |
| RS2146600016 | Health Risk | Pathogenic | — |
| RS2146600076 | Health Risk | Pathogenic | Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome |
| RS2146604602 | Health Risk | Pathogenic | Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome |
| RS2146605339 | Health Risk | Pathogenic | Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome |
| RS2146605369 | Health Risk | Pathogenic | Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome |
| RS2146605443 | Health Risk | Pathogenic | Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome |
| RS2146605568 | Health Risk | Pathogenic | Congenital muscular hypertrophy-cerebral syndrome, SMC1A-related disorder, Congenital muscular hypertrophy-cerebral syndrome |
| RS2146605644 | Health Risk | Pathogenic | Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome |
| RS2146606566 | Health Risk | Pathogenic | Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome |
| RS2146606642 | Health Risk | Pathogenic | Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome |
| RS2146614137 | Health Risk | Pathogenic | Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome |
| RS2520822018 | Health Risk | Pathogenic | Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome |
| RS2520823699 | Health Risk | Pathogenic | Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome |
| RS2520823863 | Health Risk | Pathogenic | Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome |
| RS2520828047 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 85, with or without midline brain defects |
| RS2520828155 | Health Risk | Pathogenic | Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome |
| RS2520884503 | Health Risk | Pathogenic | Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome |
| RS2520885035 | Health Risk | Pathogenic | Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy, 85 |
| RS2520904563 | Health Risk | Pathogenic | Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome |
| RS2520904776 | Health Risk | Pathogenic | — |
| RS2520919876 | Health Risk | Pathogenic | Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome |
| RS2520926208 | Health Risk | Pathogenic | Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome |
| RS2520927640 | Health Risk | Pathogenic | Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome |
| RS2520927817 | Health Risk | Pathogenic | Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome |
| RS2520927961 | Health Risk | Pathogenic | Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome |
| RS2520928651 | Health Risk | Pathogenic | See cases, See cases |
| RS2520930037 | Health Risk | Pathogenic | Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome |
| RS2520942552 | Health Risk | Pathogenic | Seizure, Seizure |
| RS2520942867 | Health Risk | Pathogenic | Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome |
| RS2520957861 | Health Risk | Pathogenic | Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome |
| RS2520958047 | Health Risk | Pathogenic | Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome |
| RS2520963220 | Health Risk | Pathogenic | Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome |
| RS2520969372 | Health Risk | Pathogenic | Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome |
| RS2520970378 | Health Risk | Pathogenic | Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy, 85 |
| RS2520970863 | Health Risk | Pathogenic | Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome |
| RS2521010322 | Health Risk | Pathogenic | Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome |
| RS587784403 | Health Risk | Pathogenic | Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome |
| RS587784421 | Health Risk | Pathogenic | Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome |
| RS587784422 | Health Risk | Pathogenic | Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy, 85 |