PIKFYVE

Gene

3 papers2 findings

HGNC NCBI Gene Taxon

1 lab in 1 country

Humans1
Animals1
In silico1

Effects

PI(3,5)P2 production

upin human cells1

1 study

PIKFYVE increases PI(3,5)P2 production in human cells.
“showed a reduced PI(3,5)P2 production upon hyperosmotic stimulation”
Cellsfamily 1 with loss-of-function PIKFYVE variants; upon hyperosmotic stimulationpatient-derived fibroblasts
Gene variants linked to brain disorder in five people
Brain : a journal of neurologyOct 14, 2026

Associations

Hypomyelinating leukodystrophy

upin humans1

1 study

PIKFYVE is associated with hypomyelinating leukodystrophy in humans.
“We identified biallelic PIKFYVE variants in five affected individuals with hypomyelinating leukodystrophy”
Humansbiallelic PIKFYVE variantsn = 5
Gene variants linked to brain disorder in five people
Brain : a journal of neurologyOct 14, 2026

Latest

2 in 12 months

BrainOct 14

Gene variants linked to brain disorder in five people

Sequencing identified changes in both copies of PIKFYVE in five people from three families with a disorder involving too little insulation around nerve fibres.Sequencing identified changes in both copies of PIKFYVE in five people from three families with a disorder involving too little insulation around nerve fibres.

Study of 5 peopleMechanisms

Paper

FigshareApr 26