SGCE, sarcoglycan epsilon

SGCE, sarcoglycan epsilon

• 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 Synonyms (epsilon-sarcoglycan, dystonia 11, myoclonic, DYT11, ESG, epsilon-SG,)
• NCBI Gene ID: 8910
• Species: Homo sapiens (Human)
• UNIPROT ID#>>O43556
  UNIPROT ID#>>E9PEH6
  UNIPROT ID#>>C9JR67
  UNIPROT ID#>>B4DP78
  UNIPROT ID#>>A0A0S2Z4P5
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

sarcoglycan epsilon interacts with:

• ariadne RBR E3 ubiquitin protein ligase 2
  CWC15 spliceosome associated protein homolog
  transmembrane protein 30B

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.