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FLASH GENE
Symbol SGCA contributors: mct/npt - updated : 14-06-2008
HGNC name sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
HGNC id 10805
Corresponding disease
LGMD2D limb girdle muscular dystrophy 2D
Location 17q21      Physical location : 48.243.365 - 48.253.292
Synonym name
  • adhalin
  • adhalin (limb girdle muscular dystrophy 2D)
  • 50 kDa dystrophin-associated glycoprotein
    • Synonym symbol(s) ADL, DAG50, DAPA2, A2, DAG2, DMDA2, 50-DAG, SCARMD1, LGMD2D
    DNA
    TYPE functioning gene
    STRUCTURE 9.00 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 1404 42.8 387 - Rafii (2006)
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivefemale systemovary  moderately
    Respiratoryrespiratory tractlarynx  highly
    Visualeye   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac  
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to murine Sgca
    Homologene
    FAMILY
  • sarcoglycan alpha/epsilon family
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton
    text
  • sarcolemma
  • type I membrane protein
    • basic FUNCTION
  • playing a role in muscle contraction
  • forming a link between the F-actin cytoskeleton and the extracellular matrix
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text muscular development
    PATHWAY
    metabolism
    signaling
    a component
  • associating with other sarcoglycans and carcospan in a stoichiometrically equal complex, stabilizing the link between dystroglycan and dystrophin/utrophin
  • two major subcomplexes : one consisting of SGCB, SGCD and SGCG and the other consisiting of SGCB and SGCD (association between SGCB and SGCG is particularly strong while SGCA is loosely associated with the other sarcoglycans)
    • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
    • protein
  • dystrophin
  • syntrophin SNTA1
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) LGMD2D
    related resource Limb-Girdle Muscular Dystrophy, Type 2D
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS