Reviewed April 2011
What is the official name of the SGCD gene?
The official name of this gene is “sarcoglycan delta.”
SGCD is the gene's official symbol. The SGCD gene is also known by other names, listed below.
What is the normal function of the SGCD gene?
The SGCD gene provides instructions for making the delta 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. The dystrophin complex 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 SGCD gene related to health conditions?
- limb-girdle muscular dystrophy - caused by mutations in the SGCD gene
At least 14 mutations in the SGCD gene have been identified in people with limb-girdle muscular dystrophy type 2F. Limb-girdle muscular dystrophy is a group of related disorders characterized by muscle weakness and wasting, particularly in the shoulders, hips, and limbs. People with limb-girdle muscle dystrophy type F have SGCD mutations in both copies of the gene in each cell (autosomal recessive inheritance pattern).
A small number of people with limb-girdle muscular dystrophy type 2F have developed a heart condition called dilated cardiomyopathy. Dilated cardiomyopathy is a form of heart disease that enlarges and weakens the heart (cardiac) muscle, preventing it from pumping blood efficiently. Dilated cardiomyopathy progresses rapidly and can be life-threatening.
Forms of limb-girdle muscular dystrophy caused by gene mutations that affect the sarcoglycan complex are called sarcoglycanopathies. SGCD 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.
- other disorders - associated with the SGCD gene
A small number of people who develop dilated cardiomyopathy without skeletal muscle involvement have been found to have a mutation in one copy of the SGCD gene in each cell, an inheritance pattern called autosomal dominant.
Since other individuals with one SGCD gene mutation in each cell have normal heart muscle, some researchers question whether SGCD gene mutations are related to autosomal dominant dilated cardiomyopathy.
Where is the SGCD gene located?
Cytogenetic Location: 5q33.3
Molecular Location on chromosome 5: base pairs 156,117,934 to 156,767,788
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/6444))
The SGCD gene is located on the long (q) arm of chromosome 5 at position 33.3.
More precisely, the SGCD gene is located from base pair 156,117,934 to base pair 156,767,788 on chromosome 5.
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 SGCD?
You and your healthcare professional may find the following resources about SGCD 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=%28%28SGCD%5BTIAB%5D%29%20OR%20%28sarcoglycan,%20delta%5BTIAB%5D%29%29%20OR%20%28%2835%20kDa%20dystrophin-associated%20glycoprotein%5BTIAB%5D%29%20OR%20%2835DAG%5BTIAB%5D%29%20OR%20%28DAGD%5BTIAB%5D%29%20OR%20%28delta-sarcoglycan%5BTIAB%5D%29%20OR%20%28delta-SG%5BTIAB%5D%29%20OR%20%28LGMD2F%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%201080%20days%22%5Bdp%5D)
OMIM - Genetic disorder catalog
- CARDIOMYOPATHY, DILATED, 1L (http://omim.org/entry/606685)
- SARCOGLYCAN, DELTA (http://omim.org/entry/601411)
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=10807)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6444)
What other names do people use for the SGCD gene or gene products?
- 35 kDa dystrophin-associated glycoprotein
- 35kD dystrophin-associated glycoprotein
- placental delta sarcoglycan
- sarcoglycan, delta (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 SGCD?
autosomal dominant ;
autosomal recessive ;
extracellular matrix ;
inheritance pattern ;
muscle cell ;
muscle cells ;
muscular dystrophy ;
skeletal muscle ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Bauer R, Hudson J, Müller HD, Sommer C, Dekomien G, Bourke J, Routledge D, Bushby K, Klepper J, Straub V. Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist? Eur J Hum Genet. 2009 Sep;17(9):1148-53. doi: 10.1038/ejhg.2009.17. Epub 2009 Mar 4. (http://www.ncbi.nlm.nih.gov/pubmed/19259135?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)
- Gene Review: Limb-Girdle Muscular Dystrophy Overview (http://www.ncbi.nlm.nih.gov/books/NBK1408)
- Guglieri M, Magri F, Comi GP. Molecular etiopathogenesis of limb girdle muscular and congenital muscular dystrophies: boundaries and contiguities. Clin Chim Acta. 2005 Nov;361(1-2):54-79. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16002060?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/6444)
- 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)
- Tsubata S, Bowles KR, Vatta M, Zintz C, Titus J, Muhonen L, Bowles NE, Towbin JA. Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. J Clin Invest. 2000 Sep;106(5):655-62. (http://www.ncbi.nlm.nih.gov/pubmed/10974018?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.