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FLASH GENE
Symbol NHS contributors: mct/npt - updated : 26-10-2018
HGNC name Nance-Horan syndrome (congenital cataracts and dental anomalies)
HGNC id 7820
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • four conserved nuclear localization signals
  • a functional WHD (WAVE homology domain) which interacts with the Abi family of proteins (Brooks 2010)
    • HOMOLOGY
    interspecies ortholog to murine Xcat
    Homologene
    FAMILY
  • NHS family
    • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,tight
        intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,nucleus,nucleoplasm,nuclear bodies
    text
  • localized at the tight junction (Sharma 2006)
  • localizes to sites of cell–cell contact, the leading edge of lamellipodia and focal adhesions (Brooks 2010)
    • basic FUNCTION
  • key functions in the regulation of eye, tooth, brain and craniofacial development
  • regulator of actin remodelling and cell morphology, that orchestrates actin regulatory protein function in response to signalling events during development (Brooks 2010)
  • essential for maintaining cell morphology through the regulation of actin cytoskeletal dynamics (Brooks 2010)
  • also controls lamellipod protrusions in motile cells (Brooks 2010)
  • regulatory role of NHS in actin remodeling, is cell type dependent
  • encode for a functional WAVE homology domain and to be a part of WAVE heteropentameric complex that is critical for actin remodeling and cell morphology control, and subsequently, for cell motility, migration, and cell contact
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NHS , CCXNS3
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS