Reviewed April 2011
What is the official name of the SGCG gene?
The official name of this gene is “sarcoglycan gamma.”
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 23,160,506 to 23,325,165
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/6445))
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 23,160,506 to base pair 23,325,165 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.
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=%28SGCG%5BTIAB%5D%29%20OR%20%28%28gamma-sarcoglycan%5BTIAB%5D%29%20OR%20%28DMDA%5BTIAB%5D%29%20OR%20%28SCG3%5BTIAB%5D%29%20OR%20%28LGMD2C%5BTIAB%5D%29%20OR%20%2835DAG%5BTIAB%5D%29%20OR%20%28gamma-SG%5BTIAB%5D%29%20OR%20%28gamma%20sarcoglycan%5BTIAB%5D%29%20OR%20%2835%20kDa%20dystrophin-associated%20glycoprotein%5BTIAB%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%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
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=10809)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6445)
What other names do people use for the SGCG gene or gene products?
- 35 kDa dystrophin-associated glycoprotein
- 35kD dystrophin-associated glycoprotein
- gamma sarcoglycan
- sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
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?
extracellular matrix ;
muscle cell ;
muscle cells ;
muscular dystrophy ;
You may find definitions for these and many other terms in the Genetics Home Reference
- 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)
- 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)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6445)
- 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)
- OMIM: SARCOGLYCAN, GAMMA (http://omim.org/entry/608896)
- 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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.