SGCA

For other uses of "SGCA", see StoneGate Christian Academy and subependymal giant cell astrocytoma.

SGCA
Identifiers
Aliases	SGCA, 50-DAG, A2, ADL, DAG2, DMDA2, LGMD2D, SCARMD1, adhalin, 50DAG, sarcoglycan alpha, LGMDR3
External IDs	OMIM: 600119; MGI: 894698; HomoloGene: 9; GeneCards: SGCA; OMA:SGCA - orthologs
Gene location (Human) Chr. Chromosome 17 (human) Band 17q21.33 Start 50,164,214 bp End 50,175,928 bp
Gene location (Mouse) Chr. Chromosome 11 (mouse) Band 11|11 D Start 94,853,617 bp End 94,867,153 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in muscle of thigh gastrocnemius muscle apex of heart right coronary artery ascending aorta popliteal artery tibial arteries Descending thoracic aorta right auricle gastric mucosa Top expressed in muscle of thigh ankle triceps brachii muscle sternocleidomastoid muscle extensor digitorum longus muscle temporal muscle vastus lateralis muscle interventricular septum digastric muscle triceps surae More reference expression data BioGPS n/a
Gene ontology Molecular function calcium ion binding protein binding Cellular component cytoplasm integral component of membrane membrane raft dystroglycan complex sarcolemma plasma membrane dystrophin-associated glycoprotein complex cytoskeleton membrane cell-cell junction sarcoglycan complex Biological process muscle organ development muscle contraction membrane organization response to denervation involved in regulation of muscle adaptation skeletal muscle tissue regeneration Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6442 20391 Ensembl ENSG00000108823 ENSMUSG00000001508 UniProt Q16586 P82350 RefSeq (mRNA) NM_000023 NM_001135697 NM_009161 RefSeq (protein) NP_000014 NP_001129169 NP_033187 Location (UCSC) Chr 17: 50.16 – 50.18 Mb Chr 11: 94.85 – 94.87 Mb PubMed search
Wikidata
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Alpha-sarcoglycan is a protein that in humans is encoded by the SGCA gene.

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].

Clinical significance

Mutations in the SGCA gene are known to cause Limb-girdle muscular dystrophy, autosomal recessive 3 (LGMDR3). 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.

Further reading

• 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. PMC 185739. 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. 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 & 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. 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, 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.

External links

• LOVD mutation database: SGCA