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 significanceedit
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.
^ abcGRCh38: Ensembl release 89: ENSG00000108823 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000001508 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^McNally EM, Yoshida M, Mizuno Y, Ozawa E, Kunkel LM (Oct 1994). "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. Bibcode:1994PNAS...91.9690M. doi:10.1073/pnas.91.21.9690. PMC44882. PMID 7937874.
^Bowe MA, Mendis DB, Fallon JR (Feb 2000). "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. doi:10.1083/jcb.148.4.801. PMC2169361. PMID 10684260.
Further readingedit
Kawai H, Akaike M, Endo T, Adachi K, Inui T, Mitsui T, Kashiwagi S, Fujiwara T, Okuno S, Shin S (Sep 1995). "Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency". The Journal of Clinical Investigation. 96 (3): 1202–7. doi:10.1172/JCI118152. PMC185739. PMID 7657792.
Piccolo F, Roberds SL, Jeanpierre M, Leturcq F, Azibi K, Beldjord C, Carrié A, Récan D, Chaouch M, Reghis A (Jun 1995). "Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity". Nature Genetics. 10 (2): 243–5. doi:10.1038/ng0695-243. PMID 7663524. S2CID 24181208.
Yang B, Jung D, Motto D, Meyer J, Koretzky G, Campbell KP (May 1995). "SH3 domain-mediated interaction of dystroglycan and Grb2". The Journal of Biological Chemistry. 270 (20): 11711–4. doi:10.1074/jbc.270.20.11711. PMID 7744812.
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. PMID 8069911. S2CID 34496266.
Roberds SL, Anderson RD, Ibraghimov-Beskrovnaya O, Campbell KP (Nov 1993). "Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin)". The Journal of Biological Chemistry. 268 (32): 23739–42. doi:10.1016/S0021-9258(20)80440-2. PMID 8226900.
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. PMID 8528203.
Duggan DJ, Gorospe JR, Fanin M, Hoffman EP, Angelini C (Feb 1997). "Mutations in the sarcoglycan genes in patients with myopathy". The New England Journal of Medicine. 336 (9): 618–24. doi:10.1056/NEJM199702273360904. PMID 9032047.
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 (Jun 1997). "Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)". Journal of Medical Genetics. 34 (6): 470–5. doi:10.1136/jmg.34.6.470. PMC1050969. PMID 9192266.
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. PMID 9585331. S2CID 20359273.
Chan YM, Bönnemann CG, Lidov HG, Kunkel LM (Dec 1998). "Molecular organization of sarcoglycan complex in mouse myotubes in culture". The Journal of Cell Biology. 143 (7): 2033–44. doi:10.1083/jcb.143.7.2033. PMC2175228. PMID 9864373.
Bowe MA, Mendis DB, Fallon JR (Feb 2000). "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. doi:10.1083/jcb.148.4.801. PMC2169361. PMID 10684260.
Yoshida M, Hama H, Ishikawa-Sakurai M, Imamura M, Mizuno Y, Araishi K, Wakabayashi-Takai E, Noguchi S, Sasaoka T, Ozawa E (Apr 2000). "Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy". Human Molecular Genetics. 9 (7): 1033–40. doi:10.1093/hmg/9.7.1033. PMID 10767327.
Barresi R, Moore SA, Stolle CA, Mendell JR, Campbell KP (Dec 2000). "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. doi:10.1074/jbc.M007799200. PMID 10993904.
Wakayama Y, Inoue M, Kojima H, Murahashi M, Shibuya S, Oniki H (Nov 2001). "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. doi:10.1002/jemt.1166. PMID 11747090. S2CID 22683866.
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. PMID 15298081.
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. PMID 15954112. S2CID 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 (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. PMID 16189514. S2CID 4427026.
sgca, other, uses, stonegate, christian, academy, subependymal, giant, cell, astrocytoma, alpha, sarcoglycan, protein, that, humans, encoded, gene, identifiersaliases, dag2, dmda2, lgmd2d, scarmd1, adhalin, 50dag, sarcoglycan, alpha, lgmdr3external, idsomim, 6. For other uses of SGCA see StoneGate Christian Academy and subependymal giant cell astrocytoma Alpha sarcoglycan is a protein that in humans is encoded by the SGCA gene 5 6 SGCAIdentifiersAliasesSGCA 50 DAG A2 ADL DAG2 DMDA2 LGMD2D SCARMD1 adhalin 50DAG sarcoglycan alpha LGMDR3External IDsOMIM 600119 MGI 894698 HomoloGene 9 GeneCards SGCAGene location Human Chr Chromosome 17 human 1 Band17q21 33Start50 164 214 bp 1 End50 175 928 bp 1 Gene location Mouse Chr Chromosome 11 mouse 2 Band11 11 DStart94 853 617 bp 2 End94 867 153 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed ingastrocnemius muscleright coronary arteryascending aortapopliteal arterygastric mucosaleft coronary arteryleft ventricletriceps brachii musclevastus lateralis muscleskeletal muscle tissueTop expressed inankletriceps brachii musclesternocleidomastoid muscleextensor digitorum longus muscletemporal musclevastus lateralis muscleinterventricular septumdigastric muscletriceps suraetibialis anterior muscleMore reference expression dataBioGPSn aGene ontologyMolecular functioncalcium ion binding protein bindingCellular componentcytoplasm integral component of membrane membrane raft dystroglycan complex sarcolemma plasma membrane dystrophin associated glycoprotein complex cytoskeleton membrane cell cell junction sarcoglycan complexBiological processmuscle organ development muscle contraction membrane organization response to denervation involved in regulation of muscle adaptation skeletal muscle tissue regenerationSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez644220391EnsemblENSG00000108823ENSMUSG00000001508UniProtQ16586P82350RefSeq mRNA NM 000023NM 001135697NM 009161RefSeq protein NP 000014NP 001129169NP 033187Location UCSC Chr 17 50 16 50 18 MbChr 11 94 85 94 87 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Clinical significance 3 Interactions 4 References 5 Further reading 6 External linksFunction editThe 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 editMutations 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 Interactions editSGCA has been shown to interact with Biglycan 8 References edit a b c GRCh38 Ensembl release 89 ENSG00000108823 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000001508 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine McNally EM Yoshida M Mizuno Y Ozawa E Kunkel LM Oct 1994 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 Bibcode 1994PNAS 91 9690M doi 10 1073 pnas 91 21 9690 PMC 44882 PMID 7937874 a b Entrez Gene SGCA sarcoglycan alpha 50kDa dystrophin associated glycoprotein UniProt www uniprot org Retrieved 2023 11 22 Bowe MA Mendis DB Fallon JR Feb 2000 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 doi 10 1083 jcb 148 4 801 PMC 2169361 PMID 10684260 Further reading editKawai H Akaike M Endo T Adachi K Inui T Mitsui T Kashiwagi S Fujiwara T Okuno S Shin S Sep 1995 Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency The Journal of Clinical Investigation 96 3 1202 7 doi 10 1172 JCI118152 PMC 185739 PMID 7657792 Piccolo F Roberds SL Jeanpierre M Leturcq F Azibi K Beldjord C Carrie A Recan D Chaouch M Reghis A Jun 1995 Primary adhalinopathy a common cause of autosomal recessive muscular dystrophy of variable severity Nature Genetics 10 2 243 5 doi 10 1038 ng0695 243 PMID 7663524 S2CID 24181208 Yang B Jung D Motto D Meyer J Koretzky G Campbell KP May 1995 SH3 domain mediated interaction of dystroglycan and Grb2 The Journal of Biological Chemistry 270 20 11711 4 doi 10 1074 jbc 270 20 11711 PMID 7744812 Roberds SL Leturcq F Allamand V Piccolo F Jeanpierre M Anderson RD Lim LE Lee JC Tome 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 PMID 8069911 S2CID 34496266 Roberds SL Anderson RD Ibraghimov Beskrovnaya O Campbell KP Nov 1993 Primary structure and muscle specific expression of the 50 kDa dystrophin associated glycoprotein adhalin The Journal of Biological Chemistry 268 32 23739 42 doi 10 1016 S0021 9258 20 80440 2 PMID 8226900 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 PMID 8528203 Duggan DJ Gorospe JR Fanin M Hoffman EP Angelini C Feb 1997 Mutations in the sarcoglycan genes in patients with myopathy The New England Journal of Medicine 336 9 618 24 doi 10 1056 NEJM199702273360904 PMID 9032047 Carrie A Piccolo F Leturcq F de Toma C Azibi K Beldjord C Vallat JM Merlini L Voit T Sewry C Urtizberea JA Romero N Tome FM Fardeau M Sunada Y Campbell KP Kaplan JC Jeanpierre M Jun 1997 Mutational diversity and hot spots in the alpha sarcoglycan gene in autosomal recessive muscular dystrophy LGMD2D Journal of Medical Genetics 34 6 470 5 doi 10 1136 jmg 34 6 470 PMC 1050969 PMID 9192266 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 amp Nerve 21 6 769 75 doi 10 1002 SICI 1097 4598 199806 21 6 lt 769 AID MUS9 gt 3 0 CO 2 5 PMID 9585331 S2CID 20359273 Chan YM Bonnemann CG Lidov HG Kunkel LM Dec 1998 Molecular organization of sarcoglycan complex in mouse myotubes in culture The Journal of Cell Biology 143 7 2033 44 doi 10 1083 jcb 143 7 2033 PMC 2175228 PMID 9864373 Bowe MA Mendis DB Fallon JR Feb 2000 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 doi 10 1083 jcb 148 4 801 PMC 2169361 PMID 10684260 Yoshida M Hama H Ishikawa Sakurai M Imamura M Mizuno Y Araishi K Wakabayashi Takai E Noguchi S Sasaoka T Ozawa E Apr 2000 Biochemical evidence for association of dystrobrevin with the sarcoglycan sarcospan complex as a basis for understanding sarcoglycanopathy Human Molecular Genetics 9 7 1033 40 doi 10 1093 hmg 9 7 1033 PMID 10767327 Barresi R Moore SA Stolle CA Mendell JR Campbell KP Dec 2000 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 doi 10 1074 jbc M007799200 PMID 10993904 Wakayama Y Inoue M Kojima H Murahashi M Shibuya S Oniki H Nov 2001 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 doi 10 1002 jemt 1166 PMID 11747090 S2CID 22683866 Walter MC Dekomien G Schlotter Weigel B Reilich P Pongratz D Muller Felber W Epplen JT Huebner A Lochmuller H May 2004 Respiratory insufficiency as a presenting symptom of LGMD2D in adulthood Acta Myologica 23 1 1 5 PMID 15298081 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 PMID 15954112 S2CID 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 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 PMID 16189514 S2CID 4427026 External links editLOVD mutation database SGCA Retrieved from https en wikipedia org w index php title SGCA amp oldid 1187771121, wikipedia, wiki, book, books, library,
