Protein-coding gene in the species Homo sapiens
Myotubularin related protein 14 also known as MTMR14 is a protein which in humans is encoded by the MTMR14 gene.[5]
Expression of Mtmr14 increased with myotubule formation and differentiation. MTMR14 is a phosphatidylinositol-3-phosphatase that dephosphorylates the same substrates as myotubularin, PtdIns(3)P and PtdIns(3,5)P2.[6]
Clinical significance
[edit]Mutations in the MTMR14 gene are associated with myotubular myopathy.[6]
- ^ a b c GRCh38: Ensembl release 89: ENSG00000163719 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000030269 – Ensembl, May 2017
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