MTMR2
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
Myotubularin-related protein 2 also known as phosphatidylinositol-3,5-bisphosphate 3-phosphatase or phosphatidylinositol-3-phosphate phosphatase is a protein that in humans is encoded by the MTMR2 gene.[5][6][7][8]
External IDsOMIM: 603557; MGI: 1924366; HomoloGene: 22951; GeneCards: MTMR2; OMA:MTMR2 - orthologs
Function
This gene is a member of the myotubularin family and encodes a putative tyrosine phosphatase. The protein also contains a GRAM domain.[5] Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Multiple alternatively spliced transcript variants have been found, but the biological validity of some variants has not been determined.[8]
