Rabbit anti-Human SGCE Polyclonal Antibody

Uniprot Id

O43556

Target Species

Human

Target Name

SGCE

Target Full Name

Epsilon-sarcoglycan

Target Function

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.

Target Involvement

Dystonia 11, myoclonic (DYT11)

Target Subcellular Location

Cell membrane, sarcolemma; Single-pass membrane protein. Cytoplasm, cytoskeleton. Cell projection, dendrite. Golgi apparatus.

Target Protein Families

Sarcoglycan alpha/epsilon family

Target Tissue Specificity

Ubiquitous.

Target Synonyms

SGCE; ESG; UNQ433/PRO840; Epsilon-sarcoglycan; Epsilon-SG

Target Background

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.