{"symbol":"MTMR14","synonyms":["C3ORF29"],"name":"myotubularin related protein 14","description":"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]","ncbiEntrezGeneId":64419,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/64419","proteins":[{"symbol":"MTMRE_HUMAN","href":"/api/1.0/protein/MTMRE_HUMAN"}],"hgncRootFamilies":[{"name":"Phosphatases","href":"/api/1.0/gene_family/Phosphatases"}]}