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词条 SGCZ
释义

  1. Function

  2. Clinical significance

  3. References

  4. External links

  5. Further reading

{{Infobox_gene}}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

1. ^1 {{cite journal | vauthors = Wheeler MT, Zarnegar S, McNally EM | title = Zeta-sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophy | journal = Hum. Mol. Genet. | volume = 11 | issue = 18 | pages = 2147–54 |date=September 2002 | pmid = 12189167 | doi = 10.1093/hmg/11.18.2147 | url = | issn = }}
2. ^{{cite web | title = Entrez Gene: SGCZ Sarcoglycan zeta | url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=137868 | accessdate = }}

External links

  • LOVD mutation database: SGCZ

Further reading

{{refbegin | 2}}
  • {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2002 |pmid= 12477932 |doi= 10.1073/pnas.242603899 |pmc=139241 }}
  • {{cite journal |vauthors=Anastasi G, Cutroneo G, Sidoti A, etal |title=Sarcoglycan subcomplex expression in normal human smooth muscle. |journal=J. Histochem. Cytochem. |volume=55 |issue= 8 |pages= 831–43 |year= 2007 |pmid= 17438352 |doi= 10.1369/jhc.6A7145.2007 }}
  • {{cite journal |vauthors=Aurino S, Piluso G, Saccone V, etal |title=Candidate-gene testing for orphan limb-girdle muscular dystrophies. |journal=Acta Myol |volume=27 |issue= |pages= 90–7 |year= 2008 |pmid= 19472918 |pmc=2858943 |doi= }}
  • {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 |pmc=528928 }}
{{refend}}{{NLM content}}{{Muscle tissue}}{{gene-8-stub}}
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