MTMR2
Template:Short description Template:Infobox gene Myotubularin-related protein 2 also known as phosphatidylinositol-3,5-bisphosphate 3-phosphatase or phosphatidylinositol-3-phosphate phosphatase is a protein that in humans is encoded by the MTMR2 gene.[1][2][3][4]
Function
This gene is a member of the myotubularin family and encodes a putative tyrosine phosphatase. The protein also contains a GRAM domain.[1] 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, but the biological validity of some variants has not been determined.[4]
Interactions
MTMR2 has been shown to interact with SBF1.[5]
References
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Further reading
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External links
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