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Metadata

Name
SGCZ sarcoglycan, zeta
Repository
HGVS Locus Specific Mutation Databases
Identifier
doi:608113
Description
The dystrophin glycoprotein complex (DGC) is found at the plasma membrane of muscle cells, where it provides a link between the cytoskeleton and the extracellular matrix. A subcomplex within the DGC, the sarcoglycan complex, associates with dystrophin and mediates muscle membrane stability. Sarcoglycans are asparagine-linked glycosylated proteins with single transmembrane domains. The sarcoglycan complex requires coordinated translation and assembly of its subunits for maintenance in the muscle membrane (summary by {1:Wheeler et al., 2002}).
Data or Study Types
gene expression
Source Organization
Human Genome Variation Society
Access Conditions
available
Year
2016
This project was funded in part by grant U24AI117966 from the NIH National Institute of Allergy and Infectious Diseases as part of the Big Data to Knowledge program. We thank all members of the bioCADDIE community for their valuable input on the overall project.