MTMR14
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Myotubularin related protein 14 also known as MTMR14 is a protein which in humans is encoded by the MTMR14 gene.[1]
Function
Expression of Mtmr14 increased with myotubule formation and differentiation. MTMR14 is a phosphatidylinositol-3-phosphatase that dephosphorylates the same substrates as myotubularin, PtdIns(4,5)P2 and PtdIns(3,4,5)P3.[2]
Clinical significance
Mutations in the MTMR14 gene are associated with myotubular myopathy.[2]
References
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