Gene: MTMR14

Alternate names for this Gene: C3orf29

Gene Summary: 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.

Gene is located in Chromosome: 3

Location in Chromosome : 3p25.3

Description of this Gene: myotubularin related protein 14

Type of Gene: protein-coding