SGCD

From Wikipedia, the free encyclopedia

Sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)

Identifiers

SGCD; 35DAG; CMD1L; DAGD; MGC22567; SG-delta; SGCDP; SGD

External IDs

OMIM: 601411 MGI: 1346525 HomoloGene: 285

Gene ontology
Molecular Function:	• protein binding
Cellular Component:	• cytoskeleton • plasma membrane • sarcoglycan complex • integral to membrane
Biological Process:	• cytoskeleton organization and biogenesis • muscle development

Orthologs

Human

Mouse

Refseq

NM_000337 (mRNA)
NP_000328 (protein)

NM_011891 (mRNA)
NP_036021 (protein)

Location

Chr 5: 155.69 - 156.13 Mb

Chr 11: 46.82 - 47.2 Mb

Pubmed search

[1]

[2]

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]

[edit] References

^ ^a ^b Entrez Gene: SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein).

[edit] 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.