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FIG4
FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)
FIG4 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.
| Gene Name: | FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) |
| Synonyms: | FIG4, ALS11, CMT4J, HSac3, KIAA0274, RP1-249I4.1, DJ249I4.1, FIG4 homolog (S. cerevisiae), SAC3 |
| Target Sequences: | NM_014845 NP_055660.1 Q92562 |
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