Symbol: Name: ID: |
SGCE sarcoglycan, epsilon GFS:724 |
Gene name: | SGCE |
Chromosome: | 7q21.3 |
Previous Symbols: | DYT11 |
Previous Names: | |
Aliases: | |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1329042 | Rat Genome Database ID: | RGD:1303201 |
HGNC ID: | HGNC:10808 | RefSeq IDs: | NM_001099400 |
Entrez Gene ID: | 8910 | Ensembl Gene ID: | ENSG00000127990 |
VEGA IDs: | OTTHUMG00000022828 | UniProt ID: | O43556 |
UCSC ID: | uc003unn.2 | OMIM ID: | 604149 |
Pubmed: | PMID9475163 PMID 9405466 | ||
CCDS IDs: | CCDSCCDS5637.1 CCDS CCDS47642.1 CCDS CCDS47643.1 |
Epsilon-sarcoglycan is a protein that in humans is encoded by the SGCE gene. 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.
Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix.
Products for SGCE gene
Catalog | Product Name | Application | Company |
GFS:E00724 | sarcoglycan, epsilon; ELISA kit | ELISA | n/a |
GFS:A00724 | sarcoglycan, epsilon; Anti | ANTIBODIES | n/a |
GFS:P00724 | sarcoglycan, epsilon; Protien | Protien | n/a |