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Description
Purified anti-FIG4/SAC3. Phosphoinositides (PIs) are signaling molecules that regulate vesicle trafficking in eukaryotic cells and are important for maintaining the nervous system. The levels of PIs are regulated by specific protein kinases and phosphatases. FIG4 protein (the homolog of yeast SAC3 protein), is a phosphatase well conserved from mammals to yeast, and is known to dephosphorylate phosphatidylinositol-3,5-bisphosphate (PI(3,5)P2) at the 5th position of inositol. By interacting with FAB1 and VAC14, the protein complex regulates the overall level of PI(3,5)P2. Loss of function of FIG4 leads to the reduction of the cellular PI(3,5)P2 levels. Mutations of human FIG4 gene cause autosomal recessive Charcot-Marie-Tooth type 4BJ (CMT4BJ) neuropathy with hereditary motor and sensory degeneration. Variants of FIG4 gene have also been found in patients with amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS), suggesting it may be a risk factor for these disorders.
Immunogen
Fusion protein amino corresponding to amino acids 688-907 (C-terminus) of mouse FIG4.
Other Names
SAC3, SAC domain-containing protein 3, Polyphosphoinositide phosphatase, Phosphatidylinositol 3,5-bisphosphate 5-phosphatase