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FLASH GENE
Symbol SGCE contributors: mct - updated : 23-05-2011
HGNC name sarcoglycan, epsilon
HGNC id 10808
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a transmembrane domain
  • one signal sequence
  • a large extracellular domain containing four conserved cysteine residues
  • a short cytoplasmic domain
  • potential glycosylation site
    • conjugated GlycoP
    HOMOLOGY
    intraspecies homolog to alpha sarcoglycan,highly
    Homologene
    FAMILY
  • sarcoglycan alpha/epsilon family
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton
    text sarcolemma, type 2 membrane protein
    basic FUNCTION
  • forming a link between actin cytoskeleton and the extra-cellular matrix
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • associating with other sarcoglycans and sarcospan in a stoichiometrically equal complex,stabilizing the link between dystroglycan and dystrophin/utrophin, complexed with beta delta sarcoglycan
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • utrophin, DP116, SGCB, SGCD in the Schwann cell membrane
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DYT11 , DEL7Q21
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   LOI    
    maternal chromosome 7 disomy- can cause myoclonus-dystonia
    Susceptibility to obsessive-compulsive disorder, and alcohol dependence
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS