SGCE sarcoglycan epsilon
Gene ID: 8910, updated on 5-Mar-2024Gene type: protein coding
Also known as: ESG; DYT11; epsilon-SG
- See all available tests in GTR for this gene
- Go to complete Gene record for SGCE
- Go to Variation Viewer for SGCE variants
Summary
This gene encodes the epsilon member of the sarcoglycan family. Sarcoglycans are transmembrane proteins that are components of the dystrophin-glycoprotein complex, which link the actin cytoskeleton to the extracellular matrix. Unlike other family members which are predominantly expressed in striated muscle, the epsilon sarcoglycan is more broadly expressed. Mutations in this gene are associated with myoclonus-dystonia syndrome. This gene is imprinted, with preferential expression from the paternal allele. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A pseudogene associated with this gene is located on chromosome 2. [provided by RefSeq, Oct 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Myoclonic dystonia 11 | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-11-11) ClinGen Genome Curation PagePubMedTriplosensitivity No evidence available (Last evaluated 2021-11-11) ClinGen Genome Curation Page |
Genomic context
- Location:
- 7q21.3
- Sequence:
- Chromosome: 7; NC_000007.14 (94584980..94656133, complement)
- Total number of exons:
- 16
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SGCE 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
- SGCE homepage - Leiden Muscular Dystrophy pages
- Variation ViewerRelated Variants
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