AAC79118.1
[Other Products]
UniProt Primary Accession #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
65,959 Da
NCBI Official Full Name
myotubularin related protein 2, partial
NCBI Official Synonym Full Names
myotubularin related protein 2
NCBI Protein Information
myotubularin-related protein 2
UniProt Protein Name
Myotubularin-related protein 2
UniProt Synonym Protein Names
Phosphatidylinositol-3,5-bisphosphate 3-phosphatase (EC:3.1.3.95
UniProt Synonym Gene Names
UniProt Entry Name
MTMR2_HUMAN
NCBI Summary for 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. [provided by RefSeq, Aug 2011]
UniProt Comments for MTMR2
MTMR2: Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate. Homooligomer and heterooligomer. Interacts with SBF1 and SBF2. interaction with SBF1 increases phosphatase activity. Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
Protein type: Cofactor and Vitamin Metabolism - thiamine; Phosphatase, lipid; Carbohydrate Metabolism - fructose and mannose; EC 3.1.3.95; Motility/polarity/chemotaxis; Protein phosphatase, tyrosine (non-receptor); Cofactor and Vitamin Metabolism - riboflavin; EC 3.1.3.64
Chromosomal Location of Human Ortholog: 11q22
Cellular Component: axon; cytoplasm; cytosol; dendrite; dendritic spine; early endosome membrane; nucleus; synaptic vesicle; vacuolar membrane
Molecular Function: phosphatidylinositol-3-phosphatase activity; protein binding; protein homodimerization activity; protein tyrosine phosphatase activity; protein tyrosine/serine/threonine phosphatase activity
Biological Process: inositol phosphate dephosphorylation; myelin formation; negative regulation of endocytosis; negative regulation of myelination; negative regulation of receptor internalization; neuron development; phosphatidylinositol biosynthetic process; phosphoinositide dephosphorylation; phospholipid metabolic process; protein amino acid dephosphorylation; protein tetramerization
Disease: Charcot-marie-tooth Disease, Type 4b1
Research Articles on MTMR2
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Products associated with MTMR2 elisa kit
Pathways associated with MTMR2 elisa kit
Diseases associated with MTMR2 elisa kit
Organs/Tissues associated with MTMR2 elisa kit
|