EC number 3.1.3.64 Human Mouse | Species Human Entrez 8898 | |
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Aliases MTMR2, CMT4B, CMT4B1, myotubularin related protein 2 External IDs MGI: 1924366 HomoloGene: 22951 GeneCards: MTMR2 | ||
Myotubularin-related protein 2 is a protein that in humans is encoded by the MTMR2 gene.
Contents
Function
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.
Interactions
MTMR2 has been shown to interact with SBF1.
References
MTMR2 Wikipedia(Text) CC BY-SA