SACM1L - SAC1 like phosphatidylinositide phosphatase Gene

About SACM1L

Summary

This gene encodes an integral membrane protein, which is localized to the endoplasmic reticulum, and functions as a phosphoinositide Phosphatase that hydrolyzes phosphatidylinositol 3-phosphate, phosphatidylinositol 4-phosphate, and phosphatidylinositol 3,5-bisphosphate. Deletion of this gene in mouse results in preimplantation lethality. Other studies suggest that this gene is also involved in the organization of golgi membranes and mitotic spindles. Two isoforms are predicted to be produced from the same mRNA by the use of alternative in-frame translation termination codons via a stop codon readthrough mechanism. [provided by RefSeq, Dec 2017]