Full name: FIG4 phosphoinositide 5-phosphatase

Gene type: protein coding

RefSeq status: VALIDATED

Also known as: A530089I17Rik; Sac3

Summary: Predicted to enable phosphatidylinositol bisphosphate phosphatase activity; phosphatidylinositol-3-phosphatase activity; and phosphatidylinositol-4-phosphate phosphatase activity. Acts upstream of or within several processes, including negative regulation of myelination; nervous system development; and phosphatidylinositol metabolic process. Predicted to be located in endosome membrane and lipid droplet. Predicted to colocalize with Golgi apparatus; endoplasmic reticulum; and recycling endosome. Is expressed in cerebral cortex; ganglia; nucleus pulposus; thymus primordium; and vibrissa. Used to study Charcot-Marie-Tooth disease type 4J and Yunis-Varon syndrome. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4J; Yunis-Varon syndrome; amyotrophic lateral sclerosis type 11; and bilateral parasagittal parieto-occipital polymicrogyria. Orthologous to human FIG4 (FIG4 phosphoinositide 5-phosphatase). [provided by Alliance of Genome Resources, Apr 2022]

Expression: Ubiquitous expression in heart adult (RPKM 7.1), CNS E18 (RPKM 6.7) and 28 other tissues

Gene size: 115070bp

Exon count: 23