Presku: | AAP46387 |
Size: | 100 ug |
Weight: | 52kDa |
Gene: | 8910 |
Format: | Lyophilized powder |
Target: | SGCE is a member of the sarcoglycan family. Sarcoglycans are transmembrane components in the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the muscle cytoskeleton to the extracellular matrix. Mutations in this gene have been associated with myoclonus-dystonia syndrome. Alternative splicing results in multiple transcript variants.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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Entrez Gene record to access additional publications. |
Alternative names: | DYT11; ESG |