MTMR14

Myotubularin related protein 14 also known as MTMR14 is a protein which in humans is encoded by the MTMR14 gene.

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.

Clinical significance

Mutations in the MTMR14 gene are associated with myotubular myopathy.

References

Further reading