Myotubularin-related protein 2 also known as phosphatidylinositol-3,5-bisphosphate 3-phosphatase or phosphatidylinositol-3-phosphate phosphatase is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...
that in humans is encoded by the MTMR2
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
.
Function
This gene is a member of the myotubularin family and encodes a putative tyrosine phosphatase. The protein also contains a
GRAM domain
The GRAM domain is found in glucosyltransferases, myotubularins and other membrane-associated proteins. The structure of the GRAM domain is similar to that found in Pleckstrin homology domain, PH domains.
Proteins containing GRAM domains are fo ...
.
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
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with
SBF1
Myotubularin-related protein 5 is a protein that in humans is encoded by the ''SBF1'' gene.
Interactions
SBF1 has been shown to interact with MTMR2
Myotubularin-related protein 2 also known as phosphatidylinositol-3,5-bisphosphate 3-phosphatas ...
.
References
Further reading
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External links
GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy Type 4
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