Biology:Delta-sarcoglycan
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Short description: Mammalian protein found in Homo sapiens
 Generic protein structure example |
Delta-sarcoglycan is a protein that in humans is encoded by the SGCD gene.[1][2][3][4]
Function
The protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-actin cytoskeleton and the extracellular matrix. This protein is expressed most abundantly in skeletal and cardiac muscle. The mutations in this gene have been associated with autosomal recessive limb-girdle muscular dystrophy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding distinct isoforms have been observed.[4]
In melanocytic cells SGCD gene expression may be regulated by MITF.[5]
Interactions
SGCD has been shown to interact with FLNC.[6][7]
References
- ↑ "Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD". Hum Mol Genet 5 (6): 815–20. December 1996. doi:10.1093/hmg/5.6.815. PMID 8776597.
- ↑ "Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene". Nat Genet 14 (2): 195–8. November 1996. doi:10.1038/ng1096-195. PMID 8841194.
- ↑ "Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy". J Clin Invest 106 (5): 655–62. September 2000. doi:10.1172/JCI9224. PMID 10974018.
- ↑ 4.0 4.1 "Entrez Gene: SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6444.
- ↑ "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. 2008. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971.
- ↑ "Calpain 3 cleaves filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans". Muscle Nerve 28 (4): 472–83. October 2003. doi:10.1002/mus.10465. PMID 14506720.
- ↑ "Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein". J. Cell Biol. 148 (1): 115–26. January 2000. doi:10.1083/jcb.148.1.115. PMID 10629222.
Further reading
- "Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein". Hum. Mol. Genet. 5 (8): 1179–86. 1997. doi:10.1093/hmg/5.8.1179. PMID 8842738.
- "Generation and analysis of 280,000 human expressed sequence tags". Genome Res. 6 (9): 807–28. 1997. doi:10.1101/gr.6.9.807. PMID 8889549.
- "Characterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy". J. Biol. Chem. 271 (50): 32321–9. 1997. doi:10.1074/jbc.271.50.32321. PMID 8943294.
- "A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies". J. Med. Genet. 35 (11): 951–3. 1999. doi:10.1136/jmg.35.11.951. PMID 9832045.
- "Molecular organization of sarcoglycan complex in mouse myotubes in culture". J. Cell Biol. 143 (7): 2033–44. 1999. doi:10.1083/jcb.143.7.2033. PMID 9864373.
- "rAAV vector-mediated sarcogylcan gene transfer in a hamster model for limb girdle muscular dystrophy". Gene Ther. 6 (1): 74–82. 1999. doi:10.1038/sj.gt.3300830. PMID 10341878.
- "Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy". Cell 98 (4): 465–74. 1999. doi:10.1016/S0092-8674(00)81975-3. PMID 10481911.
- "Sarcoglycan isoforms in skeletal muscle". J. Biol. Chem. 274 (53): 38171–6. 2000. doi:10.1074/jbc.274.53.38171. PMID 10608889.
- "Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein". J. Cell Biol. 148 (1): 115–26. 2000. doi:10.1083/jcb.148.1.115. PMID 10629222.
- "Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2)". Neurogenetics 1 (1): 49–58. 2000. doi:10.1007/s100480050008. PMID 10735275.
- "Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy". Hum. Mol. Genet. 9 (7): 1033–40. 2000. doi:10.1093/hmg/9.7.1033. PMID 10767327.
- "Differential expression of dystrophin, utrophin, and dystrophin-associated proteins in human muscle culture". Cell Tissue Res. 300 (3): 447–57. 2000. doi:10.1007/s004410000213. PMID 10928275.
- "Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions". Hum. Mol. Genet. 9 (13): 2019–27. 2000. doi:10.1093/hmg/9.13.2019. PMID 10942431.
- "Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex". J. Biol. Chem. 275 (49): 38554–60. 2001. doi:10.1074/jbc.M007799200. PMID 10993904.
- "Mutational analysis of the beta- and delta-sarcoglycan genes in a large number of patients with familial and sporadic dilated cardiomyopathy". Am. J. Med. Genet. A 120 (1): 8–12. 2004. doi:10.1002/ajmg.a.20003. PMID 12794684.
- "Calpain 3 cleaves filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans". Muscle Nerve 28 (4): 472–83. 2003. doi:10.1002/mus.10465. PMID 14506720.
External links
- LOVD mutation database: SGCD
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