SMC3 structural maintenance of chromosomes 3
Gene ID: 9126, updated on 3-Nov-2024Gene type: protein coding
Also known as: BAM; BMH; HCAP; CDLS3; CSPG6; SMC3L1
- See all available tests in GTR for this gene
- Go to complete Gene record for SMC3
- Go to Variation Viewer for SMC3 variants
Summary
This gene belongs to the SMC3 subfamily of SMC proteins. The encoded protein occurs in certain cell types as either an intracellular, nuclear protein or a secreted protein. The nuclear form, known as structural maintenance of chromosomes 3, is a component of the multimeric cohesin complex that holds together sister chromatids during mitosis, enabling proper chromosome segregation. Post-translational modification of the encoded protein by the addition of chondroitin sulfate chains gives rise to the secreted proteoglycan bamacan, an abundant basement membrane protein. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Cornelia de Lange syndrome 3 | See labs |
Genomic context
- Location:
- 10q25.2
- Sequence:
- Chromosome: 10; NC_000010.11 (110567695..110606048)
- Total number of exons:
- 29
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SMC3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SMC3 @ LOVD
- Variation ViewerRelated Variants
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