Species Human Entrez 137868 | Human Mouse Ensembl ENSG00000185053 | |
Aliases SGCZ, ZSG1, sarcoglycan zeta External IDs MGI: 2388820 HomoloGene: 26726 GeneCards: SGCZ | ||
Sarcoglycan zeta also known as SGCZ is a protein which in humans is encoded by the SGCZ gene.
Contents
Function
The zeta-sarcoglycan gene measures over 465 kb and localizes to 8p22. This protein is part of the sarcoglycan complex, a group of 6 proteins. The sarcoglycans are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a carboxyl-terminal cluster with several conserved cysteine residues. The sarcoglycan complex is part of the dystrophin-associated glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix.
Clinical significance
Zeta-sarcoglycan is reduced in mouse models of muscular dystrophy and SGCZ is found as a component of the vascular smooth muscle sarcoglycan complex. Hence SGCZ may be important in the pathogenesis of muscular dystrophy.