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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
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