SGCA explained

Alpha-sarcoglycan is a protein that in humans is encoded by the SGCA gene.^{[1] [2]}

Function

The dystrophin-glycoprotein complex (DGC) comprises a group of proteins that are critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Components of the DGC include dystrophin (MIM 300377), which is deficient in Duchenne muscular dystrophy (DMD; MIM 310200); syntrophins (e.g., MIM 600026); dystroglycans (MIM 128239); and sarcoglycans, such as adhalin, a 50-kD transmembrane protein (Roberds et al., 1993).[supplied by OMIM].^[2]

Clinical significance

Mutations in the SGCA gene are known to cause Limb-girdle muscular dystrophy, autosomal recessive 3 (LGMDR3).^[3] This condition causes progressive muscle wasting from early childhood leading to loss of independent mobility as a teenager.

Interactions

SGCA has been shown to interact with Biglycan.^[4]

Further reading

• Kawai H, Akaike M, Endo T, Adachi K, Inui T, Mitsui T, Kashiwagi S, Fujiwara T, Okuno S, Shin S . Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency . The Journal of Clinical Investigation . 96 . 3 . 1202–7 . Sep 1995 . 7657792 . 185739 . 10.1172/JCI118152 .
• Piccolo F, Roberds SL, Jeanpierre M, Leturcq F, Azibi K, Beldjord C, Carrié A, Récan D, Chaouch M, Reghis A . Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity . Nature Genetics . 10 . 2 . 243–5 . Jun 1995 . 7663524 . 10.1038/ng0695-243 . 24181208 .
• Yang B, Jung D, Motto D, Meyer J, Koretzky G, Campbell KP . SH3 domain-mediated interaction of dystroglycan and Grb2 . The Journal of Biological Chemistry . 270 . 20 . 11711–4 . May 1995 . 7744812 . 10.1074/jbc.270.20.11711 . free .
• Roberds SL, Leturcq F, Allamand V, Piccolo F, Jeanpierre M, Anderson RD, Lim LE, Lee JC, Tomé FM, Romero NB . Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy . Cell . 78 . 4 . 625–33 . Aug 1994 . 8069911 . 10.1016/0092-8674(94)90527-4 . 34496266 .
• Roberds SL, Anderson RD, Ibraghimov-Beskrovnaya O, Campbell KP . Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin) . The Journal of Biological Chemistry . 268 . 32 . 23739–42 . Nov 1993 . 10.1016/S0021-9258(20)80440-2 . 8226900 . free .
• Bueno MR, Moreira ES, Vainzof M, Chamberlain J, Marie SK, Pereira L, Akiyama J, Roberds SL, Campbell KP, Zatz M . A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy . Human Molecular Genetics . 4 . 7 . 1163–7 . Jul 1995 . 8528203 . 10.1093/hmg/4.7.1163 .
• Duggan DJ, Gorospe JR, Fanin M, Hoffman EP, Angelini C . Mutations in the sarcoglycan genes in patients with myopathy . The New England Journal of Medicine . 336 . 9 . 618–24 . Feb 1997 . 9032047 . 10.1056/NEJM199702273360904 . free .
• Carrié A, Piccolo F, Leturcq F, de Toma C, Azibi K, Beldjord C, Vallat JM, Merlini L, Voit T, Sewry C, Urtizberea JA, Romero N, Tomé FM, Fardeau M, Sunada Y, Campbell KP, Kaplan JC, Jeanpierre M . Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D) . Journal of Medical Genetics . 34 . 6 . 470–5 . Jun 1997 . 9192266 . 1050969 . 10.1136/jmg.34.6.470 .
• Angelini C, Fanin M, Menegazzo E, Freda MP, Duggan DJ, Hoffman EP . Homozygous alpha-sarcoglycan mutation in two siblings: one asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient . Muscle & Nerve . 21 . 6 . 769–75 . Jun 1998 . 9585331 . 10.1002/(SICI)1097-4598(199806)21:6<769::AID-MUS9>3.0.CO;2-5 . 20359273 .
• Chan YM, Bönnemann CG, Lidov HG, Kunkel LM . Molecular organization of sarcoglycan complex in mouse myotubes in culture . The Journal of Cell Biology . 143 . 7 . 2033–44 . Dec 1998 . 9864373 . 2175228 . 10.1083/jcb.143.7.2033 .
• Bowe MA, Mendis DB, Fallon JR . The small leucine-rich repeat proteoglycan biglycan binds to alpha-dystroglycan and is upregulated in dystrophic muscle . The Journal of Cell Biology . 148 . 4 . 801–10 . Feb 2000 . 10684260 . 2169361 . 10.1083/jcb.148.4.801 .
• Yoshida M, Hama H, Ishikawa-Sakurai M, Imamura M, Mizuno Y, Araishi K, Wakabayashi-Takai E, Noguchi S, Sasaoka T, Ozawa E . Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy . Human Molecular Genetics . 9 . 7 . 1033–40 . Apr 2000 . 10767327 . 10.1093/hmg/9.7.1033 . free .
• Barresi R, Moore SA, Stolle CA, Mendell JR, Campbell KP . Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex . The Journal of Biological Chemistry . 275 . 49 . 38554–60 . Dec 2000 . 10993904 . 10.1074/jbc.M007799200 . free .
• Wakayama Y, Inoue M, Kojima H, Murahashi M, Shibuya S, Oniki H . Localization of sarcoglycan, neuronal nitric oxide synthase, beta-dystroglycan, and dystrophin molecules in normal skeletal myofiber: triple immunogold labeling electron microscopy . Microscopy Research and Technique . 55 . 3 . 154–63 . Nov 2001 . 11747090 . 10.1002/jemt.1166 . 22683866 . free .
• Walter MC, Dekomien G, Schlotter-Weigel B, Reilich P, Pongratz D, Müller-Felber W, Epplen JT, Huebner A, Lochmüller H . Respiratory insufficiency as a presenting symptom of LGMD2D in adulthood . Acta Myologica . 23 . 1 . 1–5 . May 2004 . 15298081 .
• White SJ, Uitte de Willige S, Verbove D, Politano L, Ginjaar I, Breuning MH, den Dunnen JT . Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis . Human Mutation . 26 . 1 . 59 . Jul 2005 . 15954112 . 10.1002/humu.9347 . 19502163 .
• Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M . Towards a proteome-scale map of the human protein-protein interaction network . Nature . 437 . 7062 . 1173–8 . Oct 2005 . 16189514 . 10.1038/nature04209 . 2005Natur.437.1173R . 4427026 .

External links

• LOVD mutation database: SGCA

Notes and References

1. McNally EM, Yoshida M, Mizuno Y, Ozawa E, Kunkel LM . Human adhalin is alternatively spliced and the gene is located on chromosome 17q21 . Proceedings of the National Academy of Sciences of the United States of America . 91 . 21 . 9690–4 . Oct 1994 . 7937874 . 44882 . 10.1073/pnas.91.21.9690 . 1994PNAS...91.9690M . free .
2. Web site: Entrez Gene: SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein).
3. Web site: UniProt . 2023-11-22 . www.uniprot.org.
4. Bowe MA, Mendis DB, Fallon JR . The small leucine-rich repeat proteoglycan biglycan binds to alpha-dystroglycan and is upregulated in dystrophic muscle . The Journal of Cell Biology . 148 . 4 . 801–10 . Feb 2000 . 10684260 . 2169361 . 10.1083/jcb.148.4.801 .