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FLASH GENE
Symbol SLC24A4 contributors: mct/npt/pgu - updated : 16-03-2013
HGNC name solute carrier family 24 (sodium/potassium/calcium exchanger), member 4
HGNC id 10978
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two large hydrophilic loops and two sets of transmembrane spanning segments (TMs)
  • the first large hydrophilic loop is located extracellularly at the N-terminus
  • the other is cytoplasmic and separates the two sets of TMs
    • HOMOLOGY
    Homologene
    FAMILY
  • sodium/potassium/calcium exchanger family
  • SLC24A subfamily
    • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • calcium extrusion protein, K dependent (Na+) (Ca2+) exchanger regulating intracellular Ca2+ concentration
  • polytopic membrane protein that plays a critical role in Ca(2+) homeostasis in retinal rod and cone photoreceptors
  • playing a role in mediating agonist-stimulated [Ca2+]cyt and thereby vascular tone
  • probably play a particularly prominent role in regulating Ca2+ flux in environments which experience wide and frequent fluctuations in Na+ concentration
  • IRF4 and SLC24A4 loci are associated with human hair color and skin pigmentation
  • potassium-dependent Na(+)/Ca(2+) exchanger, necessary for rapid response termination and proper adaptation of vertebrate olfactory sensory neurons
  • role in shaping olfactory responses, suggesting that rapid response termination and proper adaptation of peripheral sensory receptor cells tune the sensory system for optimal perception
  • a key role for SLC24A4 in calcium transport during enamel formation
  • essential role for Ca(2+) signaling in the MC4R pathway that leads to satiety, and a non-redundant role for NCKX4-mediated Ca(2+) extrusionrusion in controlling MC4R signaling and feeding behavior
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction between HERC2 and SLC24A4 affecting determination of blue eye colour
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism SNP associated to eye and hair color
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • olfactory-specific Nckx4(-/-) mice had lower body weights and a reduced ability to locate an odorous source
  • Slc24a4 null mice identified a severe defect in tooth enamel that reflects impaired amelogenesis