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| Sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) | ||||||||||||||
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| Identifiers | ||||||||||||||
| Symbols | SGCD; 35DAG; CMD1L; DAGD; MGC22567; SG-delta; SGCDP; SGD | |||||||||||||
| External IDs | OMIM: 601411 MGI: 1346525 HomoloGene: 285 | |||||||||||||
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| Orthologs | ||||||||||||||
| Species | Human | Mouse | ||||||||||||
| Entrez | 6444 | 24052 | ||||||||||||
| Ensembl | ENSG00000170624 | ENSMUSG00000020354 | ||||||||||||
| UniProt | Q92629 | Q544D4 | ||||||||||||
| RefSeq | NM_000337 (mRNA) | NM_011891 (mRNA) | ||||||||||||
| NP_000328 (protein) | NP_036021 (protein) | |||||||||||||
| Location | Chr 5: 155.69 - 156.13 Mb |
Chr 11: 46.82 - 47.2 Mb |
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| PubMed search | [1] | [2] | ||||||||||||
Delta-sarcoglycan is a protein that in humans is encoded by the SGCD gene.[1][2][3][4]
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
- ^ Passos-Bueno MR, Moreira ES, Vainzof M, Marie SK, Zatz M (Dec 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 Sa Moreira E, Piluso G, Vainzof M, Belsito A, Politano L, Puca AA, Passos-Bueno MR, Zatz M (Nov 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:. PMID 8841194.
- ^ Tsubata S, Bowles KR, Vatta M, Zintz C, Titus J, Muhonen L, Bowles NE, Towbin JA (Sep 2000). "Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy". J Clin Invest 106 (5): 655-62. doi:. PMID 10974018.
- ^ a b "Entrez Gene: SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6444.
- ^ Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:. PMID 19067971.
- ^ Guyon, Jeffrey R; Kudryashova Elena, Potts Alexandra, Dalkilic Isin, Brosius Melissa A, Thompson Terri G, Beckmann Jacques S, Kunkel Louis M, Spencer Melissa J (Oct. 2003). "Calpain 3 cleaves filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans". Muscle Nerve (United States) 28 (4): 472-83. doi:. ISSN 0148-639X. PMID 14506720.
- ^ Thompson, T G; Chan Y M, Hack A A, Brosius M, Rajala M, Lidov H G, McNally E M, Watkins S, Kunkel L M (Jan. 2000). "Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein". J. Cell Biol. (UNITED STATES) 148 (1): 115-26. ISSN 0021-9525. PMID 10629222.
Further reading
- 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. doi:. 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. doi:. 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. doi:. 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. doi:. 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. doi:. 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:. 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. doi:. PMID 10481911.
- Liu LA, Engvall E (2000). "Sarcoglycan isoforms in skeletal muscle.". J. Biol. Chem. 274 (53): 38171–6. doi:. 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. doi:. 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. doi:. 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. doi:. 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. doi:. 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. doi:. PMID 10942431.
- 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:. 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:. 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:. 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:. PMID 14506720.
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