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sarcoglycan zeta
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| Identifiers | |
| Symbol | SGCZ |
| Entrez | 137868 |
| HUGO | 14075 |
| OMIM | 608113 |
| RefSeq | NM_139167 |
| UniProt | Q96LD1 |
| Other data | |
| Locus | Chr. 8 p22 |
Sarcoglycan zeta also known as SGCZ is a protein which in humans is encoded by the SGCZ gene.[1]
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.[2]
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.[1]
References
- ^ a b Wheeler MT, Zarnegar S, McNally EM (September 2002). "Zeta-sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophy". Hum. Mol. Genet. 11 (18): 2147–54. doi:. PMID 12189167.
- ^ "Entrez Gene: SGCZ Sarcoglycan zeta". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=137868.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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