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Lead Time
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Lipid phosphatase which efficiently dephosphorylates phosphatidylinositol 3-phosphate (PtdIns3P) and PtdIns(3,5)P2; inactive toward PtdIns4P, PtdIns(3,4)P2, PtdIns(4,5)P2 and PtdIns(3,4,5)P3.
Gene References into Functions
This study provides the first in vivo evidence for a role of myotubularins, and in particular MTMR14, in the regulation of autophagy. PMID: 20595810
The authors uncovered a key negative regulatory role in autophagy of a phosphatidylinositol 3-phosphate (PI3P) phosphatase Jumpy (MTMR14). PMID: 19590496
Study identified a novel phosphoinositide phosphatase, JUMPY in sporadic cases of centronuclear myopathy; two missense variants that affect the enzymatic function were found PMID: 17008356
C3orf29 encodes hJUMPY, a phosphoinositide 3-phosphate phosphatase that acts on PtdIns3P and PtdIns(3,5)P2. A missense mutation disrupts the catalytic activity in a patient with centronuclear myopathy. PMID: 17008356
Involvement in disease
Myopathy, centronuclear, 1 (CNM1)
Subcellular Location
Cytoplasm. Note=Found in reticular structures and plasma membrane ruffles. Concentrated near the nucleus.
Protein Families
Protein-tyrosine phosphatase family, Non-receptor class myotubularin subfamily
Tissue Specificity
Expressed in various tissues, including heart, skeletal muscle, placenta, liver, lung, kidney and pancreas.