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MTMR2
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.
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets
Predicted location
Intracellular
Single cell type specificity
Cell type enhanced (Oligodendrocytes, Late spermatids)
Immune cell specificity
Low immune cell specificity
Cell line specificity
Low cell line specificity
Interaction
Homodimer (via coiled-coil domain) (PubMed:12668758, PubMed:15998640). Heterotetramer consisting of one MTMR2 dimer and one SBF2/MTMR13 dimer (PubMed:15998640). Heterodimer with SBF1/MTMR5 (PubMed:12668758, PubMed:21372139). Heterodimer with MTMR12 (PubMed:12847286).
Molecular function
Hydrolase
More Types Infomation
- Recombinant Mouse Anti-Human MTMR2 Antibody (MOB-0940MZ)
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- Species Reactivity: Human
- Type: Mouse antibody
- Application: WB
- Chicken Anti-MTMR2 Polyclonal IgY (BRD-0378MZ)
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- Species Reactivity: Human
- Type: Chicken antibody
- Application: WB
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For Research Use Only. Not For Clinical Use.