Store at 4 deg C for short term storage. Aliquot and store at -20 deg C for long term storage. Avoid repeated freeze/thaw cycles.
General Information
Biological Significance
This gene is a member of the myotubularin family. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy.