Description
Product Characteristics:
FIG4 is a 907 amino acid protein that contains one SAC domain through which it is thought to function as a phosphoinositide phosphatase that may play an important role in signal transduction and vesicle trafficking. Defects in the gene encoding FIG4 are the cause of Charcot-Marie-Tooth disease type 4J (CMT4J) and amyotrophic lateral sclerosis type 11 (ALS11), both of which negatively affect the nervous system. CMT4J is a recessive demyelinating disorder of the peripheral nervous system and is characterized by reduced motor nerve conduction velocities and axonal degeneration. Unlike CMT4J, ALS11 is characterized by the degeneration of upper motor neurons in the brain and lower neurons in the spinal cord, causing paralysis and, ultimately, death.
Subcellular location: Cell membrane
Synonyms: 5-bisphosphate 5-phosphatase, Fig4, FIG4_HUMAN, KIAA0274, ALS11, Phosphatidylinositol 3, hSac3, Phosphatidylinositol 3,5 bisphosphate 5 phosphatase, Polyphosphoinositide phosphatase, SAC domain containing protein 3, SAC domain-containing protein 3, SAC3.
Target Information: 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]