MTMR2 Antibody – Mouse Monoclonal

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. [provided by RefSeq, Aug 2011]

Function: Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate. Ref.9 Ref.15

Enzyme regulation: interaction with SBF1 increases phosphatase activity. Ref.9

Subunit structure: Homooligomer and heterooligomer. Interacts with SBF1 and SBF2. Ref.9 Ref.10

Subcellular location: Cytoplasm. Early endosome membrane; Peripheral membrane protein. Note: Partly associated with membranes. Ref.9 Ref.10 Ref.15

Domain: The coiled-coil domain mediates interaction with SBF2. Ref.17

Post-translational modification: Phosphorylation at Ser-58 decreases MTMR2 localization to endocytic vesicular structures.

Involvement in disease: Charcot-Marie-Tooth disease 4B1 (CMT4B1) [MIM:601382]: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8 Ref.18

Sequence similarities: Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.Contains 1 GRAM domain.Contains 1 myotubularin phosphatase domain.

Sequence caution: The sequence BAA83025.2 differs from that shown. Reason: Erroneous initiation.