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MTMR14 encodes a myotubularin-related protein. Additionally we are shipping Myotubularin Related Protein 14 Antibodies (60) and Myotubularin Related Protein 14 Kits (2) and many more products for this protein.
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Morpholino-mediated knockdown of MTMR14 results in morphologic abnormalities, a developmental motor phenotype characterized by diminished spontaneous contractions and abnormal escape response, and impaired excitation-contraction coupling.
This study provides the first in vivo evidence for a role of myotubularins, and in particular MTMR14, in the regulation of autophagy.
The authors uncovered a key negative regulatory role in autophagy of a phosphatidylinositol 3-phosphate (PI3P) phosphatase Jumpy (MTMR14).
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.
propose that defect of MTMR14 promotes autophagy and cell proliferation in MEFs
In young Mtmr14 KO mice (12 weeks). The T-tubule dysmorphology (swollen and elongated) could explain, in part, the defects in Ca2thorn excitationcontraction machinery observed in previous studies.
MTMR14 may play an important role in muscle calcium homeostasis.
Data report that mice deficient in the newly identified phosphatidylinositol phosphate phosphatase MIP/MTMR14 (muscle-specific (show EIF3K Proteins) inositol phosphatase) show muscle weakness and fatigue.
This gene encodes a myotubularin-related protein. The encoded protein is a phosphoinositide phosphatase that specifically dephosphorylates phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3-phosphate. Mutations in this gene are correlated with autosomal dominant centronuclear myopathy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 18.
myotubularin related protein 14
, myotubularin-related protein 14-like
, HCV NS5A-transactivated protein 4 splice variant A-binding protein 1
, egg-derived tyrosine phosphatase homolog
, myotubularin-related protein 14