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FLASH GENE
Symbol FUZ contributors: KTN/npt/shn - updated : 26-05-2013
HGNC name fuzzy planar cell polarity protein
HGNC id 26219
Location 19q13.33      Physical location : 50.310.125 - 50.316.567
Synonym name
  • fuzzy homolog (Drosophila)
  • fuzzy homolog
  • protein fuzzy homolog
  • Synonym symbol(s) Fy, FLJ22688, NTD
    DNA
    TYPE functioning gene
    STRUCTURE 6.44 kb     11 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map cen - D19S879 - D19S604 - FUZ - D19S867 - D19S585 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 splicing 1762 - 418 - -
    10 splicing 1677 - - - -
    non-coding RNA
    10 splicing 1654 - 382 - -
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion highly in blood and predominantly in lymph
    at STAGE
    Text expressed during neural tube formation in mice
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to FUZ, Pan troglodytes
    ortholog to Fuz, Rattus norvegicus
    ortholog to Fuz, Mus musculus
    ortholog to fuz, Danio rerio
    Homologene
    FAMILY
  • fuzzy family
  • CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton
    basic FUNCTION
  • may be involved in cytoskeleton function and cell polarity in epithelial cells
  • essential for planar cell polarity signalling
  • a central role for in membrane trafficking, and essential for trafficking of cargo to basal bodies and to the apical tips of cilia, and essential for exocytosis in secretory cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • Rab-related small GTPase
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • associated with neural tube defects in humans
  • Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • disruption of fuzzy in Xenopus laevis affects PCP-dependent convergent extension with defective Hedgehog signaling and failure of planar cell polarity leading to ciliogenesis defects
  • Fuz mutant mice show neural tube defects, skeletal dysmorphologies and Hedgehog signalling defects stemming from disrupted ciliogenesis
  • Fuzzy knockout mice exhibit both neural tube defects and defective primary cilia