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; OMA:SGCE - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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]

Clinical significance

edit

Mutations in the SGCE gene are known to cause Myoclonic dystonia (DTY11).[8]

References

edit
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000127990Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000004631Ensembl, 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. ^ a b "Entrez Gene: SGCE sarcoglycan, epsilon".
  8. ^ "UniProt". www.uniprot.org. Retrieved 2023-11-23.

Further reading

edit
edit