Gene: MTMR2

Alternate names for this Gene: CMT4B|CMT4B1

Gene Summary: This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene.

Gene is located in Chromosome: 11

Location in Chromosome : 11q21

Description of this Gene: myotubularin related protein 2

Type of Gene: protein-coding

rs121434402 in MTMR2 gene and Charcot-Marie-Tooth disease type 4 PMID 10802647 2000 Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

rs523934 in MTMR2 gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.