SGCE

Identifiers

Aliases, DYT11, ESG, sarcoglycan epsilon, epsilon-SG

External IDsOMIM: ; MGI: ; HomoloGene: ; GeneCards: ; OMA:

Gene location ( Human )

Chr.Chromosome 7 (human)

Band 7q21.3 Start 94,524,204 bp

End94,656,572 bp

Gene location ( Mouse )

Chr.Chromosome 6 (mouse)

Band 6 A1|6 1.81 cM Start 4,674,350 bp

End4,747,207 bp

RNA expression pattern

HumanMouse (ortholog)tendon of biceps brachii left ovary right ovary Achilles tendon left adrenal gland left adrenal cortex tibial nerve Descending thoracic aorta right adrenal gland ascending aortasciatic nerve iris white adipose tissue umbilical cord carotid body adrenal gland vestibular sensory epithelium right lung lobe efferent ductule epididymis

Human Mouse (ortholog)

tendon of biceps brachii left ovary right ovary Achilles tendon left adrenal gland left adrenal cortex tibial nerve Descending thoracic aorta right adrenal gland ascending aortasciatic nerve iris white adipose tissue umbilical cord carotid body adrenal gland vestibular sensory epithelium right lung lobe efferent ductule epididymis

tendon of biceps brachii left ovary right ovary Achilles tendon left adrenal gland left adrenal cortex tibial nerve Descending thoracic aorta right adrenal gland ascending aorta

sciatic nerve iris white adipose tissue umbilical cord carotid body adrenal gland vestibular sensory epithelium right lung lobe efferent ductule epididymis

Gene ontologyMolecular functionCellular componentBiological processSources: /

Gene ontology

Molecular function

Cellular component

Biological process

Sources: /

OrthologsSpeciesHumanMouseEntrez Ensembl UniProtRefSeq (mRNA)RefSeq (protein)Location (UCSC)PubMed search

Orthologs

Species Human Mouse

Entrez

Ensembl

UniProt

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

PubMed search

Wikidata

View/Edit HumanView/Edit Mouse

Epsilon-sarcoglycan is a protein that in humans is encoded by the SGCE gene.

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].

Clinical significance

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

External links

LOVD mutation database:

SGCE

Clinical significance

Further reading

External links