Full name: FIG4 phosphoinositide 5-phosphatase

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: ALS11; BTOP; CMT4J; KIAA0274; SAC3; YVS; dJ249I4.1

Summary: The protein encoded by this gene belongs to the SAC domain-containing protein gene family. The SAC domain, approximately 400 amino acids in length and consisting of seven conserved motifs, has been shown to possess phosphoinositide phosphatase activity. The yeast homolog, Sac1p, is involved in the regulation of various phosphoinositides, and affects diverse cellular functions such as actin cytoskeleton organization, Golgi function, and maintenance of vacuole morphology. Membrane-bound phosphoinositides function as signaling molecules and play a key role in vesicle trafficking in eukaryotic cells. Mutations in this gene have been associated with Charcot-Marie-Tooth disease, type 4J. [provided by RefSeq, Jul 2008]

Expression: Ubiquitous expression in brain (RPKM 6.2), lung (RPKM 4.8) and 25 other tissues

Gene size: 134131bp

Exon count: 24