SGCZ

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Sarcoglycan, zeta
Identifiers
Symbols SGCZ ; ZSG1
External IDs OMIM608113 MGI2388820 HomoloGene26726 GeneCards: SGCZ Gene
Orthologs
Species Human Mouse
Entrez 137868 244431
Ensembl ENSG00000185053 ENSMUSG00000039539
UniProt Q96LD1 Q8BX51
RefSeq (mRNA) NM_139167 NM_145841
RefSeq (protein) NP_631906 NP_665840
Location (UCSC) Chr 8:
13.95 – 15.1 Mb
Chr 8:
37.52 – 38.66 Mb
PubMed search [1] [2]

Sarcoglycan zeta also known as SGCZ is a protein which in humans is encoded by the SGCZ gene.[1]

Function[edit]

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[edit]

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[edit]

  1. ^ 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:10.1093/hmg/11.18.2147. PMID 12189167. 
  2. ^ "Entrez Gene: SGCZ Sarcoglycan zeta". 

External links[edit]

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.