This gene encodes a myotubularin-related protein. The encoded protein is a phosphoinositide phosphatase that specifically dephosphorylates phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3-phosphate. Mutations in this gene are correlated with autosomal dominant centronuclear myopathy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 18.[provided by RefSeq, Apr 2010]
Forensic Context
A study in mice demonstrated that chronic methamphetamine administration significantly dysregulates the MTMR14 within microglial autophagy pathways, as revealed by single-cell RNA sequencing analysis of cortical glial cells [Oladapo et al. DOI:10.3390/Ijms26020649].