SGCZ
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
Sarcoglycan zeta also known as SGCZ is a protein which in humans is encoded by the SGCZ gene.[5]
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| Aliases | SGCZ, ZSG1, sarcoglycan zeta | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 608113; MGI: 2388820; HomoloGene: 26726; GeneCards: SGCZ; OMA:SGCZ - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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.[6]
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.[5]
