MTMR14, Official Symbol MTMR14provided by HGNC Official Full Name myotubularin related protein 14provided by HGNC Primary source HGNC:HGNC:26190 See related Ensembl:ENSG00000163719 MIM:611089; AllianceGenome:HGNC:26190 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C3orf29 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.[provided by RefSeq, Apr 2010] Expression Ubiquitous expression in bone marrow (RPKM 18.3), lymph node (RPKM 17.6) and 25 other tissues See more Orthologs mouse all