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FLASH GENE
Symbol ABHD12 contributors: mct - updated : 30-08-2017
HGNC name abhydrolase domain containing 12
HGNC id 15868
Corresponding disease
PHARC polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Location 20p11.21      Physical location : 25.275.379 - 25.371.477
Synonym name
  • chromosome 20 open reading frame 22
  • 2-arachidonoylglycerol hydrolase
  • monoacylglycerol lipase ABHD12
    • Synonym symbol(s) dJ965G21.2, DKFZP434P106, C20orf22, BEM46L2, ABHD12A, PHARC
    EC.number 3.1.1.23
    DNA
    TYPE functioning gene
    STRUCTURE 96.10 kb     13 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 1983 45.6 398 - 2010 20797687
    13 - 1610 45.6 404 - 2010 20797687
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immunemacrophage
    Nervousmicroglia
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
  • serine esterase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • with MGLL, and ABHD6, display distinct subcellular distributions, suggesting that they may control different pools of 2-AG (2-arachidonoylglycerol) in the nervous system
  • membrane-bound enzyme that exhibits monoacylglycerol (MAG) lipase activity
  • performs an essential function in the peripheral and central nervous systems and in the eye
  • could contribute to the metabolism of the endogenous cannabinoid 2-arachidonoylglycerol (2-AG) in the nervous system
  • functions as a major lysophosphatidylserine lipase in the mammalian nervous system
  • metabolic serine hydrolases ABHD16A and ABHD12 are major lipases that biosynthesize and degrade Lysophosphatidylserine (lyso-PS), respectively in the brain
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PHARC
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Abhd12 -/- mice display massive increases in a rare set of very long chain LPS lipids that have been previously reported as Tlr2 activators