Sequence in raw or FASTA format:
SGCE sarcoglycan, epsilon [Homo sapiens (human)]
|Entrez Gene ID||8910|
|Full Name||sarcoglycan, epsilon|
|General protein information||
|Organism||Homo sapiens (human)|
|Summary||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.[provided by RefSeq, Oct 2010].|
Dystonia-11, myoclonic, 159900 (3)
|Homo sapiens (human)||SGCE||NP_001092870.1|
|Pan troglodytes (chimpanzee)||SGCE||XP_001169205.1|
|Macaca mulatta (Rhesus monkey)||SGCE||XP_001096667.1|
|Canis lupus familiaris (dog)||SGCE||XP_860806.3|
|Bos taurus (cattle)||SGCE||NP_001068613.1|
|Mus musculus (house mouse)||Sgce||NP_001123660.1|
|Rattus norvegicus (Norway rat)||Sgce||NP_001002023.1|
|Gallus gallus (chicken)||SGCE||XP_004939358.1|
|Danio rerio (zebrafish)||sgce||NP_001002594.1|
|Xenopus (Silurana) tropicalis (western clawed frog)||sgce||XP_002940681.2|
|GO:0007517||muscle organ development||TAS|
|GO:0005887||integral component of plasma membrane||TAS|
|GO:0016010||dystrophin-associated glycoprotein complex||IDA|
|GO:0005509||calcium ion binding||IEA|
|UniProt||E9PEH6, C9JR67, O43556|
What is the normal function of the SGCE gene?
The SGCE gene provides instructions for making a protein called epsilon (ε)-sarcoglycan, whose function is unknown. The ε-sarcoglycan protein is found within the cell membranes of the lungs, liver, kidneys, and spleen, but it is most abundant in nerve cells (neurons) in the brain and in muscle cells. Researchers suspect that in the brain the ε-sarcoglycan protein plays a role in the functioning of synapses, which are the connections between neurons where cell-to-cell communication occurs.
People inherit one copy of most genes from their mother and one copy from their father. Both copies are typically active, or "turned on," in cells. The SGCE gene, however, is active only when it is inherited from a person's father. This sort of parent-specific difference in gene activation is caused by a phenomenon called genomic imprinting.
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