SGCE

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

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

AliasesSGCE, DYT11, ESG, sarcoglycan epsilon, epsilon-SG
End94,656,572 bp[1]
Quick facts Identifiers, Aliases ...
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
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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

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

References

Further reading

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