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FLASH GENE
Symbol PNPLA6 contributors: npt/shn - updated : 25-09-2012
HGNC name patatin-like phospholipase domain containing 6
HGNC id 16268
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • four transmembrane domains and multiple potential sites for N and O linked glycosylation
  • three cyclic nucleotide-binding domains
    • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to Pnpla6, Mus musculus
    ortholog to Pnpla6, Rattus norvegicus
    ortholog to PNPLA6, Pan troglodytes
    Homologene
    FAMILY
  • patatin-like phospholipase family
  • NTE family
    • CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
    intracellular,nucleus
    text associated with the ER of hippocampal neurons
    basic FUNCTION
  • involved in the regulation of interactions between neurons and glia in the developing brain
  • contributing to neurogdegenerative disease characterized by vacuolation and neuronal loss
  • play a role in neurite outgrowth and process elongation during neurodifferentiation
  • may be involved in intracellular membrane trafficking
  • important role in motor neuron development and implicated overexpression of BMP signaling
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    inhibited by protein kinase C activation with phorbol 12-myristate 13-acetate (PMA) stimulation
    ASSOCIATED DISORDERS
    corresponding disease(s) SPG39
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   LOH    
    in vacuolar pathology of the nervous system
    Susceptibility to organophosphorus compound-induced delayed neuropathy
    Variant & Polymorphism other mutation increasing the risk of organophosphorus compound-induced delayed neuropathy
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Nte(-/-) mice die after embryonic day 8, and Nte(+/-) mice have lower activity of Nte in the brain and higher mortality when exposed to the Nte-inhibiting compound ethyl octylphosphonofluoridate
  • Heterozygous NTE(+/-) mice displayed a 50% reduction in NTE activity but underwent normal organ development while NTE(-/-) mice died at embryonic day 9 postcoitum
  • PNPLA6 insufficiency using morpholino oligonucleotide knockdown in zebrafish results in developmental abnormalities and motor neuron defects including axon truncation and branching