epsilon-sarcoglycan; epsilon-SG (SGCE, ESG, UNQ433/PRO840)

Function

• component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton & the extracellular matrix

Structure

• belongs to the sarcoglycan alpha/epsilon family

Compartment

• cell membrane, sarcolemma;
• single-pass membrane protein (putative)
• cytoplasm, cytoskeleton

Expression

ubiquitous

Pathology

• defects in SGCE are a cause of dystonia type 11

More general terms

• sarcoglycan

Component of

• sarcoglycan complex

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=8910
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:8910
• OMIM: https://mirror.omim.org/entry/159900
• OMIM: https://mirror.omim.org/entry/604149
• UniProt: http://www.uniprot.org/uniprot/O43556.html