1zvr: Difference between revisions
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{{STRUCTURE_1zvr| PDB=1zvr | SCENE= }} | {{STRUCTURE_1zvr| PDB=1zvr | SCENE= }} | ||
===Crystal Structure of MTMR2 in complex with phosphatidylinositol 3,5-bisphosphate=== | |||
{{ABSTRACT_PUBMED_16410353}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/MTMR2_HUMAN MTMR2_HUMAN]] Defects in MTMR2 are the cause of Charcot-Marie-Tooth disease type 4B1 (CMT4B1) [MIM:[http://omim.org/entry/601382 601382]]. CMT4B1 is a recessive, severe form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy and primary peripheral axonal neuropathy. Demyelinating CMT 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.<ref>PMID:10802647</ref><ref>PMID:12398840</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/MTMR2_HUMAN MTMR2_HUMAN]] Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate.<ref>PMID:12668758</ref><ref>PMID:21372139</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:016410353</ref><references group="xtra"/> | <ref group="xtra">PMID:016410353</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Begley, M J.]] | [[Category: Begley, M J.]] | ||
