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MTMR2 Full-Length MS Protein Standard

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Product Description


NameMTMR2 Full-Length MS Protein Standard
Cat#CPFL308703
Protein Namemyotubularin related protein 2
SymbolMTMR2
SynonymsCMT4B; CMT4B1
AccessionNM_016156
Cytogenetic11q22
Amino Acid Labeled[U- 13C6, 15N4]-L-Arg and [U- 13C6, 15N2]-L-Lys
DescriptionMTMR2 Full-Length MS Protein Standard (NP_057240), Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine, was produced in human 293 cells (HEK293) with fully chemically defined cell culture medium to obtain incorporation efficiency at Creative-Proteomics. 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.

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