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FLASH GENE
Symbol ABCA12 contributors: mct/npt - updated : 06-11-2009
HGNC name ATP-binding cassette, sub-family A (ABC1), member 12
HGNC id 14637
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two ATP binding domains
  • two transmembrane domains
  • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to murine Abca12
    intraspecies homolog to ABCA1
    Homologene
    FAMILY
  • ATP-binding cassette transporter family
  • ABCA subfamily
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • epidermal keratinocyte lipid transporter involved in cellular lipid trafficking in keratinocytes
  • may play a critical role in the formation of lamellar granules and the discharge of lipids into the intercellular spaces
  • plays an important role in lipid transport from the Golgi apparatus to lamellar granule in granular layer keratinocytes (Sakai 2007)
  • its activity is required for the generation of long-chain ceramide esters that are essential for the development of normal skin structure and function, and for the generation of a specific class of lipids that are essential to the formation of the epidermal permeability barrier (Zuo 2008)
  • plays a critical role in the formation of the skin's permeability barrier via an effect on the generation of a highly specialized class of ceramide esters (Zuo 2008)
  • cellular membrane transporter that facilitates the delivery of glucosylceramides to epidermal lamellar bodies in keratinocytes, a process that is critical for permeability barrier formation (Jiang 2009)
  • plays an important role in regulating gene expression and regulates epidermal proliferation, differentiation, and wound healing (Jiang 2009)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP binding
  • protein
    cell & other
    REGULATION
    activated by ceramide (stimulates ABCA12 expression in keratinocytes via a mechanism involving PPARD signaling) (Jiang 2009)
    ASSOCIATED DISORDERS
    corresponding disease(s) ARCI4A , HFCI , NCIE4
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS