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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
Corresponding disease
ARCI4A ichthyosis, congenital, autosomal recessive 4A
HFCI harlequin fetus type of congenital ichthyosis
NCIE4 ichthyosiform erythroderma, congenital, nonbullous, 4
Location 2q35      Physical location : 215.796.266 - 216.003.151
Synonym name
  • MAP kinase kinase 3
  • MAPK/ERK kinase 3
  • dual specificity mitogen activated protein kinase kinase 3
  • Synonym symbol(s) FLJ41584, DKFZp434G232, ABC12
    DNA
    TYPE functioning gene
    SPECIAL FEATURE gene in gene
    STRUCTURE 206.89 kb     53 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    53 - 9112 293 2595 - Dean, Sakai (2007)
    45 - 8097 - 2277 - Dean, Sakai (2007)
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtongue   
     stomach   highly
    Respiratorylung    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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