XB-GENEPAGE-6044384
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mtmr2
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myotubularin related protein 2
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Nomenclature history )
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Phosphatidylinositol 3-phosphate 3-phosphatase myotubularin MTM1
AI Protein Function
:
mtmr2 encodes a phosphatidylinositol 3‑phosphate 5‑phosphatase of the myotubularin family that acts as a signaling molecule regulating phosphoinositide turnover. The protein localizes to the cytosol, e...[+]
InterPro
:
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Diseases:
Disease Ontology:
Charcot-Marie-Tooth disease type 4B1
MIM:
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4B1; CMT4B1
External Links:
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