Gene:
myotubularin related protein 2
Gene ID:
203567
Symbol:
MTMR2
Species:
1000
Description:
This gene is a member of the myotubularin family and encodes a putative tyrosine phosphatase. 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.