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Symbol KLHL40 contributors: mct - updated : 14-09-2013
HGNC name kelch-like family member 4
HGNC id 30372
Corresponding disease
NEM8 nemaline myopathy 8
Location 3p22.1      Physical location : -
Synonym name
  • sarcosynapsin
  • kelch repeat and BTB (POZ) domain containing 5
    • Synonym symbol(s) SRYP, FLJ32015, KBTBD5, NEM8, SYRP
    DNA
    TYPE functioning gene
    STRUCTURE 6.93 kb     6 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 2423 - 621 - 2013 23746549
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly Homo sapiensFetal
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one btb/poz domain
  • five kelch repeat motifs
    • HOMOLOGY
    interspecies homolog to murine Kbtbd5
    Homologene
    FAMILY
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • protein binding activity
  • crucial for myogenesis and skeletal-muscle maintenance
  • is more important for myogenesis than for muscle maintenance
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS nervous system
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NEM8
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS