SGCE
Sign in to saveAlso known as DYT11, ESG, sarcoglycan epsilon, epsilon-SG
Epsilon-sarcoglycan is a protein that in humans is encoded by the SGCE gene.
Gene data
SGCE- Name
- sarcoglycan epsilon
- Type
- protein-coding
- Position
- 94,524,204–94,656,572 (−)
- Aliases
- DYT11, ESG, epsilon-SG
- Ensembl
- ENSG00000127990
- RefSeq RNA
- NM_001099400.2, NM_001099401.2, NM_001301139.2, NM_001346713.2, NM_001346715.2
- RefSeq protein
- NP_001092870.1, NP_001092871.1, NP_001288068.1, NP_001333642.1, NP_001333644.1
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].
Gene Ontology
Biological process
Pathways
via MyGene.info
Gene · Ensembl
sarcoglycan epsilon
- Symbol
- SGCE
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 7:94,524,204-94,656,572
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
~1 min read
Encyclopedic overview
4 sectionsContents
- Clinical significance
- References
- Further reading
- External links
Epsilon-sarcoglycan is a protein that in humans is encoded by the SGCE gene.
The SGCE gene encodes the epsilon member of the sarcoglycan family, transmembrane components of the dystrophin-glycoprotein complex, which links the cytoskeleton to the extracellular matrix.[supplied by OMIM].
Excerpted from Wikipedia’s “SGCE” article, available under the CC BY-SA 4.0 licence.