MTMR14
Encyclopedia
Myotubularin related protein 14 also known as MTMR14 is a protein
which in humans is encoded by the MTMR14 gene
.
that dephosphorylates
the same substrates as myotubularin
, PtdIns(4,5)P2 and PtdIns(3,4,5)P3.
.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
which in humans is encoded by the MTMR14 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
Function
Expression of Mtmr14 increased with myotubule formation and differentiation. MTMR14 is a phosphatidylinositol-3-phosphatasePhosphatidylinositol-3-phosphatase
In enzymology, a phosphatidylinositol-3-phosphatase is an enzyme that catalyzes the chemical reactionThus, the two substrates of this enzyme are 1-phosphatidyl-1D-myo-inositol 3-phosphate and H2O, whereas its two products are 1-phosphatidyl-1D-myo-inositol and phosphate.This enzyme belongs to the...
that dephosphorylates
Dephosphorylation
Dephosphorylation is the essential process of removing phosphate groups from an organic compound by hydrolysis. Its opposite is phosphorylation...
the same substrates as myotubularin
Myotubularin
Myotubularin domain represents a region within eukaryotic myotubularin-related proteins that is sometimes found with . Myotubularin is a dual-specific lipid phosphatase that dephosphorylates phosphatidylinositol 3-phosphate and phosphatidylinositol -bi-phosphate...
, PtdIns(4,5)P2 and PtdIns(3,4,5)P3.
Clinical significance
Mutations in the MTMR14 gene are associated with myotubular myopathyCentronuclear myopathy
Centronuclear myopathies are a group of congenital myopathies where cell nuclei are abnormally located in skeletal muscle cells. In CNM the nuclei are located at a position in the center of the cell, instead of their normal location at the periphery....
.