Biology:SGCA
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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
- ↑ "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. Oct 1994. doi:10.1073/pnas.91.21.9690. PMID 7937874. Bibcode: 1994PNAS...91.9690M.
- ↑ 2.0 2.1 "Entrez Gene: SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6442.
- ↑ "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. Feb 2000. doi:10.1083/jcb.148.4.801. PMID 10684260.
Further reading
- "Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency". The Journal of Clinical Investigation 96 (3): 1202–7. Sep 1995. doi:10.1172/JCI118152. PMID 7657792.
- "Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity". Nature Genetics 10 (2): 243–5. Jun 1995. doi:10.1038/ng0695-243. PMID 7663524.
- "SH3 domain-mediated interaction of dystroglycan and Grb2". The Journal of Biological Chemistry 270 (20): 11711–4. May 1995. doi:10.1074/jbc.270.20.11711. PMID 7744812.
- "Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy". Cell 78 (4): 625–33. Aug 1994. doi:10.1016/0092-8674(94)90527-4. PMID 8069911.
- "Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin)". The Journal of Biological Chemistry 268 (32): 23739–42. Nov 1993. doi:10.1016/S0021-9258(20)80440-2. PMID 8226900.
- "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. Jul 1995. doi:10.1093/hmg/4.7.1163. PMID 8528203.
- "Mutations in the sarcoglycan genes in patients with myopathy". The New England Journal of Medicine 336 (9): 618–24. Feb 1997. doi:10.1056/NEJM199702273360904. PMID 9032047.
- "Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)". Journal of Medical Genetics 34 (6): 470–5. Jun 1997. doi:10.1136/jmg.34.6.470. PMID 9192266.
- "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. Jun 1998. doi:10.1002/(SICI)1097-4598(199806)21:6<769::AID-MUS9>3.0.CO;2-5. PMID 9585331.
- "Molecular organization of sarcoglycan complex in mouse myotubes in culture". The Journal of Cell Biology 143 (7): 2033–44. Dec 1998. doi:10.1083/jcb.143.7.2033. PMID 9864373.
- "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. Feb 2000. doi:10.1083/jcb.148.4.801. PMID 10684260.
- "Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy". Human Molecular Genetics 9 (7): 1033–40. Apr 2000. doi:10.1093/hmg/9.7.1033. PMID 10767327.
- "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. Dec 2000. doi:10.1074/jbc.M007799200. PMID 10993904.
- "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. Nov 2001. doi:10.1002/jemt.1166. PMID 11747090.
- "Respiratory insufficiency as a presenting symptom of LGMD2D in adulthood". Acta Myologica 23 (1): 1–5. May 2004. PMID 15298081.
- "Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis". Human Mutation 26 (1): 59. Jul 2005. doi:10.1002/humu.9347. PMID 15954112.
- "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. Oct 2005. doi:10.1038/nature04209. PMID 16189514. Bibcode: 2005Natur.437.1173R.
External links
- LOVD mutation database: SGCA
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