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. Multiple alternatively spliced transcript variants have been found for this gene.
Pathway
Fructose and mannose metabolism, organism-specific biosystem; Fructose and mannose metabolism, conserved biosystem;
Citations
Publication ()
Have you cited DCABH-12469 in a publication? Let us know and earn a reward for your research.
My Review for Anti-MTMR2 monoclonal antibody, clone 5H7
Creative Diagnostics products are for RESEARCH USE ONLY, please make sure your review is research based.
Required fields are marked with *
Terms and conditions:
We will select high-quality review customers and offer a $30 coupon for your next purchase.
All product reviews must be submitted in the English language.
Creative Diagnostics will not share any personal information of applicants, and all information will be treated with strict confidentiality and will not be sold or disclosed to a third party.
COA
Publication 
Loading ......
