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Alpha-sarcoglycan is a protein that in humans is encoded by the SGCAgene.[5][6]
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Transcription
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].[6]
Clinical significance
Mutations in the SGCA gene are known to cause Limb-girdle muscular dystrophy, autosomal recessive 3 (LGMDR3).[7] This condition causes progressive muscle wasting from early childhood leading to loss of independent mobility as a teenager.
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Roberds SL, Leturcq F, Allamand V, Piccolo F, Jeanpierre M, Anderson RD, Lim LE, Lee JC, Tomé FM, Romero NB (Aug 1994). "Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy". Cell. 78 (4): 625–33. doi:10.1016/0092-8674(94)90527-4. PMID8069911. S2CID34496266.
Bueno MR, Moreira ES, Vainzof M, Chamberlain J, Marie SK, Pereira L, Akiyama J, Roberds SL, Campbell KP, Zatz M (Jul 1995). "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. doi:10.1093/hmg/4.7.1163. PMID8528203.
Angelini C, Fanin M, Menegazzo E, Freda MP, Duggan DJ, Hoffman EP (Jun 1998). "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. doi:10.1002/(SICI)1097-4598(199806)21:6<769::AID-MUS9>3.0.CO;2-5. PMID9585331. S2CID20359273.
Walter MC, Dekomien G, Schlotter-Weigel B, Reilich P, Pongratz D, Müller-Felber W, Epplen JT, Huebner A, Lochmüller H (May 2004). "Respiratory insufficiency as a presenting symptom of LGMD2D in adulthood". Acta Myologica. 23 (1): 1–5. PMID15298081.
White SJ, Uitte de Willige S, Verbove D, Politano L, Ginjaar I, Breuning MH, den Dunnen JT (Jul 2005). "Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis". Human Mutation. 26 (1): 59. doi:10.1002/humu.9347. PMID15954112. S2CID19502163.
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 (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID16189514. S2CID4427026.