Sarcoglycan epsilon

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Epsilon sarcoglycan
Properties of human protein
Mass / length primary structure 437 amino acids , 49,851 Da
Identifier
External IDs
Orthologue
human House mouse
Entrez 8910 20392
Ensemble ENSG00000127990 ENSMUSG00000004631
UniProt O43556 O70258
Refseq (mRNA) NM_001099400.1 NM_001130188.1
Refseq (protein) NP_001092870.1 NP_001123660.1
Gene locus Chr 7: 94.59 - 94.66 Mb Chr 6: 4.67 - 4.75 Mb
PubMed search 8910 20392

Sarcoglycan Epsilon (ε) is a protein from the group of sarcoglycans which is encoded in humans by the SGCE gene. It belongs to the family of sarcoglycans, which together with dystroglycans form the transmembrane component of the dystrophin-glycoprotein complex. This occurs in the sarcolemma of muscle cells of striated muscles and connects the F-actin of the cytoskeleton with elements of the extracellular matrix in order to prevent the sarcolemma from being impaired by shear forces. Only the sarcoglycans α, β, γ, and δ are involved in this complex, but not ε. While the other sarcoglycans occur specifically in striated muscles, sarcoglycan ε is found in various places in the human body, such as the lungs, liver, kidneys and spleen, but above all in nerve cells . The exact role of sarcoglycan ε in the nerve cells is still unknown, but previous studies suggest that it is important for the function of the synapses .

SGCE gene

The ubiquitously expressed SGCE gene located on 7q21.3 is affected by imprinting , whereby the paternal allele is preferentially expressed. Various isoforms of the gene product resulting from alternative splicing are known. A with this gene accommodated in connection pseudogene is located on chromosome 2 localized.

Medical significance of mutations in the SGCE gene

65 possible mutations have already been observed in the SGCE gene , which cause the myoclonus dystonia syndrome. Most of these mutations lead to shortened, functionless SGCE gene products, or have the effect that the gene products no longer get from the place of their origin to the cell membrane sections where they are needed. These functional restrictions of the sarcoglycan ε proteins lead to malfunctions in the cerebellum and basal ganglia , essential locations in the nervous system for movement planning, fine tuning and control. This leads to the movement disorders of myoclonus dystonia. Usually only mutations in the paternal allele lead to the development of the disease, whereas 95% of the mutations in the maternal SGCE gene remain asymptomatic. What leads to the expression of the gene in the few cases of myoclonus dystonia caused by the maternal gene is still unclear.

Individual evidence

  1. ↑ a b SGCE sarcoglycan epsilon [Homo sapiens (human)] - genes - NCBI. Retrieved September 10, 2017 .
  2. ↑ WikiGenes - collaborative publishing. Retrieved September 10, 2017 .
  3. ↑ SGCE - epsilon-sarcoglycan - Homo sapiens (Human) - SGCE gene & protein. Retrieved September 10, 2017 .
  4. ↑ a b c Genetics Home Reference: SGCE gene. Retrieved September 10, 2017 .