SGCE Gene Sequence, Family, Fuction and Expression Information
SGCE cDNA / Gene Overview
SGCE cDNA / gene is a gene with protein product which located on 7q21.3. The SGCE gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog. 243 organisms have orthologs with human gene SGCE.
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]
SGCE cDNA / Gene Sequence
AF036364 1630 bp mRNA linear PRI 25-FEB-1998
Homo sapiens epsilon-sarcoglycan (ESG) mRNA, complete cds.
This sequence information is just for reference only.
SGCE cDNA / Gene Expression
Ubiquitous expression in ovary (RPKM 12.3), adrenal (RPKM 10.3) and 23 other tissues