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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

SPG39

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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