Entrez 64419 | Ensembl ENSG00000163719 | |
External IDs MGI: 1916075 HomoloGene: 11203 GeneCards: MTMR14 | ||
Myotubularin related protein 14 also known as MTMR14 is a protein which in humans is encoded by the MTMR14 gene.
Contents
Function
Expression of Mtmr14 increased with myotubule formation and differentiation. MTMR14 is a phosphatidylinositol-3-phosphatase that dephosphorylates the same substrates as myotubularin, PtdIns(4,5)P2 and PtdIns(3,4,5)P3.
Clinical significance
Mutations in the MTMR14 gene are associated with myotubular myopathy.
References
MTMR14 Wikipedia(Text) CC BY-SA