SGCE

Epsilon-sarcoglycan is a protein that in humans is encoded by the SGCE gene.[5][6][7]

SGCE
Identifiers
AliasesSGCE, DYT11, ESG, sarcoglycan epsilon, epsilon-SG
External IDsOMIM: 604149 MGI: 1329042 HomoloGene: 31205 GeneCards: SGCE
Gene location (Human)
Chr.Chromosome 7 (human)[1]
Band7q21.3Start94,524,204 bp[1]
End94,656,572 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

8910

20392

Ensembl

ENSG00000127990

ENSMUSG00000004631

UniProt

O43556

O70258

RefSeq (mRNA)

NM_001130188
NM_001130189
NM_001130190
NM_001130191
NM_011360

RefSeq (protein)

NP_001123660
NP_001123661
NP_001123662
NP_001123663
NP_035490

Location (UCSC)Chr 7: 94.52 – 94.66 MbChr 6: 4.67 – 4.75 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

The SGCE gene encodes the epsilon member of the sarcoglycan family, transmembrane components of the dystrophin-glycoprotein complex, which links the cytoskeleton to the extracellular matrix.[supplied by OMIM][7]

See also

References

  1. GRCh38: Ensembl release 89: ENSG00000127990 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000004631 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. McNally EM, Ly CT, Kunkel LM (Mar 1998). "Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene". FEBS Lett. 422 (1): 27–32. doi:10.1016/S0014-5793(97)01593-7. PMID 9475163. S2CID 43644239.
  6. Ettinger AJ, Feng G, Sanes JR (Jan 1998). "epsilon-Sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D". J Biol Chem. 272 (51): 32534–8. doi:10.1074/jbc.272.51.32534. PMID 9405466.
  7. "Entrez Gene: SGCE sarcoglycan, epsilon".

Further reading

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