基因名:
FIG4
产品别名:
ALS11; BTOP; CMT4J; KIAA0274; SAC3; YVS; dJ249I4.1; FIG4; FIG4 phosphoinositide 5-phosphatase; FIG4 phosphoinositide 5-phosphatase; polyphosphoinositide phosphatase; FIG4 homolog, SAC domain containing lipid phosphatase; FIG4 homolog, SAC1 domain containing lipid phosphatase; FIG4 homolog, SAC1 lipid phosphatase domain containing; SAC domain-containing protein 3; Sac domain-containing inositol phosphatase 3; phosphatidylinositol 3,5-bisphosphate 5-phosphatase; serine-protein phosphatase FIG4; 肌萎缩侧索硬化症相关蛋白FIG4;
背景信息:
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]