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FLASH GENE
Symbol KAL1 contributors: mct - updated : 01-07-2006
HGNC name Kallmann syndrome 1 sequence
HGNC id 6211
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N terminal cysteine-rich motif
  • a four disulfide core domain similar to structures described in serine protease inhibitors and neurophysin
  • four fibronectin type III repeats typical of extracellular matrix molecule and potentially involved in processes of neuronal migration and axonal guidance
  • one WAP type domain
    • conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY adhesion , signaling
    SUBCELLULAR LOCALIZATION extracellular
    text basement membrane and interstitial matrix
    basic FUNCTION
  • involved in olfactory axon targeting promoting axonal
    • branch formation from olfactory bulb output neurons
  • playing a direct action on the migratory activity of the GnRH neurons
  • co-ligand modulator of FGFR signaling that amplifies and specifies FGFR1 signaling responses during nervous system development
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS nervous system
    text axon guidance
    PATHWAY
    metabolism
    signaling sensory transduction/olfaction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • heparin binding protein
  • interaction between anosmin-1 and the FGFR1-FGF2-heparan sulfate complex, leading to amplified responses in the FGFR1 signaling pathway
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) KAL1 , DELXPM
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS