SGCA
For the Christian school abbreviated "SGCA", see StoneGate Christian Academy.
| Sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | SGCA ; 50-DAG; A2; ADL; DAG2; DMDA2; LGMD2D; SCARMD1; adhalin | ||||||||||||
| External IDs | OMIM: 600119 MGI: 894698 HomoloGene: 9 GeneCards: SGCA Gene | ||||||||||||
| |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 6442 | 20391 | |||||||||||
| Ensembl | ENSG00000108823 | ENSMUSG00000001508 | |||||||||||
| UniProt | Q16586 | P82350 | |||||||||||
| RefSeq (mRNA) | NM_000023 | NM_009161 | |||||||||||
| RefSeq (protein) | NP_000014 | NP_033187 | |||||||||||
| Location (UCSC) |
Chr 17: 50.16 – 50.18 Mb |
Chr 11: 94.96 – 94.98 Mb | |||||||||||
| PubMed search | |||||||||||||
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]
Interactions
SGCA has been shown to interact with Biglycan.[3]
References
- ↑ 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. doi:10.1073/pnas.91.21.9690. PMC 44882. PMID 7937874.
- 1 2 "Entrez Gene: SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)".
- ↑ 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
- 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.
- 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.
- 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. 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.
- 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.
- 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.
- 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. doi:10.1038/nature04209. PMID 16189514.
External links
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
This article is issued from Wikipedia - version of the Tuesday, February 09, 2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.