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

rs587777713 in FIG4;AK9 gene and CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J PMID 21705420 2011 Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.

PMID 17572665 2007 Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.

PMID 21655088 2011 Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J.