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Genetics Home Reference: your guide to understanding genetic conditions
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SGCG

Reviewed April 2011

What is the official name of the SGCG gene?

The official name of this gene is “sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein).”

SGCG is the gene's official symbol. The SGCG gene is also known by other names, listed below.

What is the normal function of the SGCG gene?

The SGCG gene provides instructions for making the gamma component (subunit) of a group of proteins called the sarcoglycan protein complex. The sarcoglycan protein complex is located in the membrane surrounding muscle cells. It helps maintain the structure of muscle tissue by attaching (binding) to and stabilizing the dystrophin complex, which is made up of proteins called dystrophins and dystroglycans. The large dystrophin complex strengthens muscle fibers and protects them from injury as muscles tense (contract) and relax. It acts as an anchor, connecting each muscle cell's structural framework (cytoskeleton) with the lattice of proteins and other molecules outside the cell (extracellular matrix).

How are changes in the SGCG gene related to health conditions?

limb-girdle muscular dystrophy - caused by mutations in the SGCG gene

Approximately 40 mutations in the SGCG gene have been identified in people with limb-girdle muscular dystrophy type 2C. Limb-girdle muscular dystrophy is a group of related disorders characterized by muscle weakness and wasting, particularly in the shoulders, hips, and limbs. Forms of limb-girdle muscular dystrophy caused by gene mutations that affect the sarcoglycan complex are called sarcoglycanopathies.

SGCG gene mutations may prevent the sarcoglycan complex from forming or from binding to and stabilizing the dystrophin complex. Problems with these complexes reduce the strength and resilience of muscle fibers and result in the signs and symptoms of limb-girdle muscular dystrophy.

Where is the SGCG gene located?

Cytogenetic Location: 13q12

Molecular Location on chromosome 13: base pairs 23,755,059 to 23,899,303

The SGCG gene is located on the long (q) arm of chromosome 13 at position 12.

The SGCG gene is located on the long (q) arm of chromosome 13 at position 12.

More precisely, the SGCG gene is located from base pair 23,755,059 to base pair 23,899,303 on chromosome 13.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about SGCG?

You and your healthcare professional may find the following resources about SGCG helpful.

  • Educational resources - Information pages
    University of Washington Neuromuscular Disease Center (http://neuromuscular.wustl.edu/musdist/lg.html)
  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1408/)

  • Genetic Testing Registry - Repository of genetic test information

    • GTR: Genetic tests for SGCG (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6445%5Bgeneid%5D)

You may also be interested in these resources, which are designed for genetics professionals and researchers.

  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=(SGCG%5BTIAB%5D)%20OR%20((gamma-sarcoglycan%5BTIAB%5D)%20OR%20(DMDA%5BTIAB%5D)%20OR%20(SCG3%5BTIAB%5D)%20OR%20(LGMD2C%5BTIAB%5D)%20OR%20(35DAG%5BTIAB%5D)%20OR%20(gamma-SG%5BTIAB%5D)%20OR%20(gamma%20sarcoglycan%5BTIAB%5D)%20OR%20(35%20kDa%20dystrophin-associated%20glycoprotein%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%20720%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/608896)

  • Research Resources - Tools for researchers

    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/6445)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=6445)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=10809)

What other names do people use for the SGCG gene or gene products?

  • A4
  • 35DAG
  • DAGA4
  • DMDA
  • DMDA1
  • 35kD dystrophin-associated glycoprotein
  • gamma sarcoglycan
  • gamma-sarcoglycan
  • gamma-SG
  • 35 kDa dystrophin-associated glycoprotein
  • LGMD2C
  • MAM
  • MGC130048
  • SCARMD2
  • SCG3
  • SGCG_HUMAN
  • SG-gamma
  • TYPE

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding SGCG?

cell ; cytoskeleton ; extracellular ; extracellular matrix ; gene ; injury ; muscular dystrophy ; protein ; resilience ; subunit ; tissue ; wasting

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References

  • Bönnemann CG, Wong J, Jones KJ, Lidov HG, Feener CA, Shapiro F, Darras BT, Kunkel LM, North KN. Primary gamma-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile. Neuromuscul Disord. 2002 Mar;12(3):273-80. (http://www.ncbi.nlm.nih.gov/pubmed/11801399?dopt=Abstract)
  • Broglio L, Tentorio M, Cotelli MS, Mancuso M, Vielmi V, Gregorelli V, Padovani A, Filosto M. Limb-girdle muscular dystrophy-associated protein diseases. Neurologist. 2010 Nov;16(6):340-52. doi: 10.1097/NRL.0b013e3181d35b39. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21150381?dopt=Abstract)
  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/6445)
  • Georgieva B, Todorova A, Tournev I, Mitev V, Kremensky I. C283Y gamma-sarcoglycan gene mutation in the Bulgarian Roma (Gypsy) population: prevalence study and carrier screening in a high-risk community. Clin Genet. 2004 Nov;66(5):467-72. (http://www.ncbi.nlm.nih.gov/pubmed/15479193?dopt=Abstract)
  • Guglieri M, Straub V, Bushby K, Lochmüller H. Limb-girdle muscular dystrophies. Curr Opin Neurol. 2008 Oct;21(5):576-84. doi: 10.1097/WCO.0b013e32830efdc2. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18769252?dopt=Abstract)
  • Hack AA, Groh ME, McNally EM. Sarcoglycans in muscular dystrophy. Microsc Res Tech. 2000 Feb 1-15;48(3-4):167-80. Review. (http://www.ncbi.nlm.nih.gov/pubmed/10679964?dopt=Abstract)
  • Meena AK, Sreenivas D, Sundaram C, Rajasekhar R, Sita JS, Borgohain R, Suvarna A, Kaul S. Sarcoglycanopathies: a clinico-pathological study. Neurol India. 2007 Apr-Jun;55(2):117-21. (http://www.ncbi.nlm.nih.gov/pubmed/17558114?dopt=Abstract)
  • OMIM: SARCOGLYCAN, GAMMA (http://omim.org/entry/608896)
  • Ozawa E, Mizuno Y, Hagiwara Y, Sasaoka T, Yoshida M. Molecular and cell biology of the sarcoglycan complex. Muscle Nerve. 2005 Nov;32(5):563-76. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15937871?dopt=Abstract)
  • Sandonà D, Betto R. Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects. Expert Rev Mol Med. 2009 Sep 28;11:e28. doi: 10.1017/S1462399409001203. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19781108?dopt=Abstract)
  • Straub V, Bushby K. The childhood limb-girdle muscular dystrophies. Semin Pediatr Neurol. 2006 Jun;13(2):104-14. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17027860?dopt=Abstract)
  • Trabelsi M, Kavian N, Daoud F, Commere V, Deburgrave N, Beugnet C, Llense S, Barbot JC, Vasson A, Kaplan JC, Leturcq F, Chelly J. Revised spectrum of mutations in sarcoglycanopathies. Eur J Hum Genet. 2008 Jul;16(7):793-803. doi: 10.1038/ejhg.2008.9. Epub 2008 Feb 20. (http://www.ncbi.nlm.nih.gov/pubmed/18285821?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: April 2011
Published: May 20, 2013