SGCZ

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SGCZ
Identifiers
Aliases SGCZ, ZSG1, sarcoglycan zeta
External IDs MGI: 2388820 HomoloGene: 26726 GeneCards: 137868
Genetically Related Diseases
Disease Name References
obesity
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_139167
NM_001322879
NM_001322880
NM_001322881

NM_145841

RefSeq (protein)

NP_631906.2

NP_665840.2

Location (UCSC) Chr 8: 14.09 – 15.24 Mb Chr 8: 37.52 – 38.66 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

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.