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SGCE (NM_001301139) - sarcoglycan epsilon

Epsilon-Sarcoglycan Isoform 4

PTM Interaction Network Visualisation

Protein summary

This is an alternative isoform of SGCE protein. View all 4 isoforms
SGCE: epsilon-sarcoglycan isoform 4
Description:

This gene encodes the epsilon member of the sarcoglycan family. Sarcoglycans are transmembrane proteins that are components of the dystrophin-glycoprotein complex, which link the actin cytoskeleton to the extracellular matrix. Unlike other family members which are predominantly expressed in striated muscle, the epsilon sarcoglycan is more broadly expressed. Mutations in this gene are associated with myoclonus-dystonia syndrome. This gene is imprinted, with preferential expression from the paternal allele. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A pseudogene associated with this gene is located on chromosome 2. [provided by RefSeq, Oct 2016].

Strand
-
Chromosome
7
Protein
396 residues
All mutations
124
PTM sites
5
CDS
94,214,810 - 94,285,410
Transcription
94,214,535 - 94,285,521
18.69% of sequence is predicted to be disordered

Usage summary

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 8910
UniProt
Ensembl