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Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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SGCD

Introduction

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

References

  1. ↑ 1.0 1.1 “Entrez Gene: SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)”.
Further reading

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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