MTMR14
Function
Lipid phosphatase that specifically dephosphorylates the D-3 position of phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate, generating phosphatidylinositol and phosphatidylinositol 5-phosphate.
Involvement in disease
Myopathy, centronuclear, 1
CNM1
A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers.
None
The gene represented in this entry may act as a disease modifier. MTMR14 mutations affecting enzymatic function have been found in sporadic cases of centronuclear myopathy, one of them carrying a disease-associated mutation in DNM2 (PubMed:17008356). This raises the possibility of MTMR14 being a modifier of the phenotype in some cases of centronuclear myopathy (PubMed:17008356).
Sequence Similarities
Belongs to the 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.
Cellular localization
- Cytoplasm
- Found in reticular structures and plasma membrane ruffles. Concentrated near the nucleus.
Alternative names
C3orf29, MTMR14, HCV NS5A-transactivated protein 4 splice variant A-binding protein 1, Myotubularin-related protein 14, Phosphatidylinositol-3-phosphate phosphatase, hJumpy, NS5ATP4ABP1