Sarcoglycan alpha

Sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
Identifiers
Symbols	SGCA ; A2; 50-DAG; ADL; DAG2; DMDA2; LGMD2D; SCARMD1; adhalin
External IDs	Template:OMIM5 Template:MGI HomoloGene: 9
Gene ontology Molecular function Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein), also known as SGCA, is a human gene.

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]

Further reading

• Kawai H, Akaike M, Endo T; et al. (1995). "Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency". J. Clin. Invest. 96 (3): 1202–7. PMID 7657792.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Piccolo F, Roberds SL, Jeanpierre M; et al. (1995). "Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity". Nat. Genet. 10 (2): 243–5. doi:10.1038/ng0695-243. PMID 7663524.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Yang B, Jung D, Motto D; et al. (1995). "SH3 domain-mediated interaction of dystroglycan and Grb2". J. Biol. Chem. 270 (20): 11711–4. PMID 7744812.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• McNally EM, Yoshida M, Mizuno Y; et al. (1994). "Human adhalin is alternatively spliced and the gene is located on chromosome 17q21". Proc. Natl. Acad. Sci. U.S.A. 91 (21): 9690–4. PMID 7937874.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Roberds SL, Leturcq F, Allamand V; et al. (1994). "Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy". Cell. 78 (4): 625–33. PMID 8069911.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Roberds SL, Anderson RD, Ibraghimov-Beskrovnaya O, Campbell KP (1993). "Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin)". J. Biol. Chem. 268 (32): 23739–42. PMID 8226900.CS1 maint: Multiple names: authors list (link)
• Bueno MR, Moreira ES, Vainzof M; et al. (1996). "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". Hum. Mol. Genet. 4 (7): 1163–7. PMID 8528203.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Duggan DJ, Gorospe JR, Fanin M; et al. (1997). "Mutations in the sarcoglycan genes in patients with myopathy". N. Engl. J. Med. 336 (9): 618–24. PMID 9032047.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Carrié A, Piccolo F, Leturcq F; et al. (1997). "Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)". J. Med. Genet. 34 (6): 470–5. PMID 9192266.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Angelini C, Fanin M, Menegazzo E; et al. (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. PMID 9585331.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Chan YM, Bönnemann CG, Lidov HG, Kunkel LM (1999). "Molecular organization of sarcoglycan complex in mouse myotubes in culture". J. Cell Biol. 143 (7): 2033–44. PMID 9864373.CS1 maint: Multiple names: authors list (link)
• Bowe MA, Mendis DB, Fallon JR (2000). "The small leucine-rich repeat proteoglycan biglycan binds to alpha-dystroglycan and is upregulated in dystrophic muscle". J. Cell Biol. 148 (4): 801–10. PMID 10684260.CS1 maint: Multiple names: authors list (link)
• Yoshida M, Hama H, Ishikawa-Sakurai M; et al. (2000). "Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy". Hum. Mol. Genet. 9 (7): 1033–40. PMID 10767327.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Barresi R, Moore SA, Stolle CA; et al. (2001). "Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex". J. Biol. Chem. 275 (49): 38554–60. doi:10.1074/jbc.M007799200. PMID 10993904.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wakayama Y, Inoue M, Kojima H; et al. (2002). "Localization of sarcoglycan, neuronal nitric oxide synthase, beta-dystroglycan, and dystrophin molecules in normal skeletal myofiber: triple immunogold labeling electron microscopy". Microsc. Res. Tech. 55 (3): 154–63. doi:10.1002/jemt.1166. PMID 11747090.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Walter MC, Dekomien G, Schlotter-Weigel B; et al. (2004). "Respiratory insufficiency as a presenting symptom of LGMD2D in adulthood". Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases. 23 (1): 1–5. PMID 15298081.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• White SJ, Uitte de Willige S, Verbove D; et al. (2006). "Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis". Hum. Mutat. 26 (1): 59. doi:10.1002/humu.9347. PMID 15954112.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Rual JF, Venkatesan K, Hao T; et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)