Delta-sarcoglycan

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Sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
Identifiers
Symbols SGCD ; 35DAG; CMD1L; DAGD; SG-delta; SGCDP; SGD
External IDs OMIM601411 MGI1346525 HomoloGene285 GeneCards: SGCD Gene
Orthologs
Species Human Mouse
Entrez 6444 24052
Ensembl ENSG00000170624 ENSMUSG00000020354
UniProt Q92629 P82347
RefSeq (mRNA) NM_000337 NM_011891
RefSeq (protein) NP_000328 NP_036021
Location (UCSC) Chr 5:
155.3 – 156.19 Mb
Chr 11:
46.9 – 47.99 Mb
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[edit]

SGCD has been shown to interact with FLNC.[6][7]

References[edit]

  1. ^ Passos-Bueno MR, Moreira ES, Vainzof M, Marie SK, Zatz M (December 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. doi:10.1093/hmg/5.6.815. PMID 8776597. 
  2. ^ Nigro V, de Sa Moreira E, Piluso G, Vainzof M, Belsito A, Politano L, Puca AA, Passos-Bueno MR, Zatz M (November 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. 
  3. ^ Tsubata S, Bowles KR, Vatta M, Zintz C, Titus J, Muhonen L, Bowles NE, Towbin JA (September 2000). "Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy". J Clin Invest 106 (5): 655–62. doi:10.1172/JCI9224. PMC 381284. PMID 10974018. 
  4. ^ a b "Entrez Gene: SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)". 
  5. ^ 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:10.1111/j.1755-148X.2008.00505.x. PMID 19067971. 
  6. ^ Guyon, Jeffrey R; Kudryashova Elena; Potts Alexandra; Dalkilic Isin; Brosius Melissa A; Thompson Terri G; Beckmann Jacques S; Kunkel Louis M; Spencer Melissa J (October 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:10.1002/mus.10465. ISSN 0148-639X. PMID 14506720. 
  7. ^ Thompson, T G; Chan Y M; Hack A A; Brosius M; Rajala M; Lidov H G; McNally E M; Watkins S; Kunkel L M (January 2000). "Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein". J. Cell Biol. (UNITED STATES) 148 (1): 115–26. doi:10.1083/jcb.148.1.115. ISSN 0021-9525. PMC 3207142. PMID 10629222. 

Further reading[edit]

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