Gene: FIG4
Alternate names for this Gene: ALS11|BTOP|CMT4J|KIAA0274|SAC3|YVS|dJ249I4.1
Gene 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.
Gene is located in Chromosome: 6
Location in Chromosome : 6q21
Description of this Gene: FIG4 phosphoinositide 5-phosphatase
Type of Gene: protein-coding
Gene: AK9
Alternate names for this Gene: AK 9|AKD1|AKD2|C6orf199|C6orf224|dJ70A9.1
Gene Summary: The protein encoded by this gene catalyzes the interconversion of nucleosides, possessing both nucleoside monophosphate and diphosphate kinase activities. The encoded protein uses these interconversions to maintain nucleoside homeostasis.
Gene is located in Chromosome: 6
Location in Chromosome : 6q21
Description of this Gene: adenylate kinase 9
Type of Gene: protein-coding