Myotubularin related protein 14 (MTMR14)

Myotubularin related protein 14 (MTMR14) is an enzyme in the myotubularin family with dual-specificity phosphatase activity, primarily known for dephosphorylating phosphatidylinositol 3-phosphate (PI(3)P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2)[1][2][4]. MTMR14 is expressed predominantly in skeletal muscle, where it plays a key role in calcium homeostasis and muscle contractility by regulating phosphoinositide signaling[1][3]. Loss-of-function mutations in MTMR14 lead to autosomal dominant centronuclear myopathy and have been linked to enhanced muscle degeneration and early onset sarcopenia, likely through disruption of calcium signaling and phospholipid metabolism[2][3]. While MTMR14 has not been directly targeted by any known drugs to date, it is considered a promising therapeutic target for muscle disorders, and its downregulation or dysfunction can serve as a biomarker for muscle aging and myopathies[3]. There are no established drugs or specific reported safety concerns for pharmacologic inhibition of MTMR14, but genetic loss is associated with muscle weakness and compromised physiological function[3].

Other names

Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14C3orf29NS5ATP4ABP1FLJ22405FLJ90311hJumpyhEDTPHCV NS5A-transactivated protein 4 splice variant A-binding protein 1egg-derived tyrosine phosphatase homologjumpymuscle-specific inositide phosphatase (MIP)