Product details
Background:
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] ,






