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SGCA gene

sarcoglycan alpha
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Normal Function

The SGCA gene provides instructions for making the alpha 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).

Health Conditions Related to Genetic Changes

Limb-girdle muscular dystrophy

More than 70 mutations in the SGCA gene have been identified in people with limb-girdle muscular dystrophy type 2D. 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.

The most common SGCA gene mutation occurs in about one-third of people with limb-girdle muscular dystrophy type 2D. This mutation replaces the protein building block (amino acid) arginine with the amino acid cysteine at position 77 in the alpha-sarcoglycan protein, written as Arg77Cys or R77C. The rest of the known SGCA gene mutations are specific to individual families or certain populations.

SGCA 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.

More About This Health Condition

Other Names for This Gene

  • 50 kDa dystrophin-associated glycoprotein
  • 50-DAG
  • 50DAG
  • 50kD DAG
  • adhalin
  • ADL
  • alpha-sarcoglycan
  • alpha-SG
  • DAG2
  • DMDA2
  • dystroglycan-2
  • LGMD2D
  • sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
  • SCARMD1
  • SG-alpha
  • SGCA_HUMAN

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources

References

  • 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. Citation on PubMed
  • 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. Citation on PubMed
  • Guglieri M, Straub V, Bushby K, Lochm├╝ller H. Limb-girdle muscular dystrophies. Curr Opin Neurol. 2008 Oct;21(5):576-84. doi: 10.1097/WCO.0b013e32830efdc2. Review. Citation on PubMed
  • Hack AA, Groh ME, McNally EM. Sarcoglycans in muscular dystrophy. Microsc Res Tech. 2000 Feb 1-15;48(3-4):167-80. Review. Citation on PubMed
  • Laval SH, Bushby KM. Limb-girdle muscular dystrophies--from genetics to molecular pathology. Neuropathol Appl Neurobiol. 2004 Apr;30(2):91-105. Review. Citation on PubMed
  • 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. Citation on PubMed
  • 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. Citation on PubMed
  • Sandon├á D, Betto R. Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects. Expert Rev Mol Med. 2009 Sep 28;11:e28. doi: 10.1017/S1462399409001203. Review. Citation on PubMed or Free article on PubMed Central
  • Straub V, Bushby K. The childhood limb-girdle muscular dystrophies. Semin Pediatr Neurol. 2006 Jun;13(2):104-14. Review. Citation on PubMed
  • 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. Citation on PubMed
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