SGCD
Identifiers
AliasesSGCD, 35DAG, CMD1L, DAGD, SG-delta, SGCDP, SGD, sarcoglycan delta, LGMDR6
External IDsOMIM: 601411 MGI: 1346525 HomoloGene: 285 GeneCards: SGCD
Orthologs
SpeciesHumanMouse
Entrez

6444

24052

Ensembl

ENSG00000170624

n/a

UniProt

Q92629

P82347

RefSeq (mRNA)

NM_000337
NM_001128209
NM_172244

NM_011891

RefSeq (protein)

NP_000328
NP_001121681
NP_758447

NP_036021

Location (UCSC)Chr 5: 155.87 – 156.77 Mbn/a
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

Delta-sarcoglycan is a protein that in humans is encoded by the SGCD gene.[4][5][6][7]

Function

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.[7]

In melanocytic cells SGCD gene expression may be regulated by MITF.[8]

Interactions

SGCD has been shown to interact with FLNC.[9][10]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000170624 - Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ 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.
  5. ^ Nigro V, de Sá 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. S2CID 25671609.
  6. ^ 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.
  7. ^ a b "Entrez Gene: SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)".
  8. ^ Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E (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. S2CID 24698373.
  9. ^ Guyon JR, Kudryashova E, Potts A, Dalkilic I, Brosius MA, Thompson TG, Beckmann JS, Kunkel LM, Spencer MJ (October 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. S2CID 86353802.
  10. ^ Thompson TG, Chan YM, Hack AA, Brosius M, Rajala M, Lidov HG, McNally EM, Watkins S, Kunkel LM (January 2000). "Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein". J. Cell Biol. 148 (1): 115–26. doi:10.1083/jcb.148.1.115. PMC 3207142. PMID 10629222.

Further reading

External links

Muscle tissue
Categories