SGCD

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Sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
Identifiers
Symbols SGCD ; 35DAG; CMD1L; DAGD; MGC22567; SG-delta; SGCDP; SGD
External IDs Template:OMIM5 Template:MGI HomoloGene285
Orthologs
Template:GNF Ortholog box
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a

Sarcoglycan, delta (35kDa dystrophin-associated glycoprotein), also known as SGCD, is a human gene.[1]

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.[1]

References

  1. 1.0 1.1 "Entrez Gene: SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)".

Further reading

  • Passos-Bueno MR, Moreira ES, Vainzof M; et al. (1996). "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. PMID 8776597.
  • Nigro V, de Sá Moreira E, Piluso G; et al. (1996). "Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene". Nat. Genet. 14 (2): 195–8. doi:10.1038/ng1096-195. PMID 8841194.
  • Nigro V, Piluso G, Belsito A; et al. (1997). "Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein". Hum. Mol. Genet. 5 (8): 1179–86. PMID 8842738.
  • Hillier LD, Lennon G, Becker M; et al. (1997). "Generation and analysis of 280,000 human expressed sequence tags". Genome Res. 6 (9): 807–28. PMID 8889549.
  • Jung D, Duclos F, Apostol B; et al. (1997). "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. PMID 8943294.
  • Moreira ES, Vainzof M, Marie SK; et al. (1999). "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. PMID 9832045.
  • Chan YM, Bönnemann CG, Lidov HG, Kunkel LM (1999). "Molecular organization of sarcoglycan complex in mouse myotubes in culture". J. Cell Biol. 143 (7): 2033–44. PMID 9864373.
  • Li J, Dressman D, Tsao YP; et al. (1999). "rAAV vector-mediated sarcogylcan gene transfer in a hamster model for limb girdle muscular dystrophy". Gene Ther. 6 (1): 74–82. doi:10.1038/sj.gt.3300830. PMID 10341878.
  • Coral-Vazquez R, Cohn RD, Moore SA; et al. (1999). "Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy". Cell. 98 (4): 465–74. PMID 10481911.
  • Liu LA, Engvall E (2000). "Sarcoglycan isoforms in skeletal muscle". J. Biol. Chem. 274 (53): 38171–6. PMID 10608889.
  • Thompson TG, Chan YM, Hack AA; et al. (2000). "Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein". J. Cell Biol. 148 (1): 115–26. PMID 10629222.
  • Duggan DJ, Manchester D, Stears KP; et al. (2000). "Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2)". Neurogenetics. 1 (1): 49–58. PMID 10735275.
  • Yoshida M, Hama H, Ishikawa-Sakurai M; et al. (2000). "Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy". Hum. Mol. Genet. 9 (7): 1033–40. PMID 10767327.
  • Radojevic V, Lin S, Burgunder JM (2000). "Differential expression of dystrophin, utrophin, and dystrophin-associated proteins in human muscle culture". Cell Tissue Res. 300 (3): 447–57. PMID 10928275.
  • Crosbie RH, Lim LE, Moore SA; et al. (2000). "Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions". Hum. Mol. Genet. 9 (13): 2019–27. PMID 10942431.
  • Tsubata S, Bowles KR, Vatta M; et al. (2000). "Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy". J. Clin. Invest. 106 (5): 655–62. PMID 10974018.
  • Barresi R, Moore SA, Stolle CA; et al. (2001). "Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex". J. Biol. Chem. 275 (49): 38554–60. doi:10.1074/jbc.M007799200. PMID 10993904.
  • Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
  • Sylvius N, Duboscq-Bidot L, Bouchier C; et al. (2004). "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. doi:10.1002/ajmg.a.20003. PMID 12794684.
  • Guyon JR, Kudryashova E, Potts A; et al. (2003). "Calpain 3 cleaves filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans". Muscle Nerve. 28 (4): 472–83. doi:10.1002/mus.10465. PMID 14506720.

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