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].
Bolis, Coviello, Visigalli, Taveggia, Bachi, Chishti, Hanada, Quattrini, Previtali, Biffi, Bolino: "Dlg1, Sec8, and Mtmr2 regulate membrane homeostasis in Schwann cell myelination." in: The Journal of neuroscience : the official journal of the Society for Neuroscience, Vol. 29, Issue 27, pp. 8858-70, (2009) (PubMed).
Strausberg, Feingold, Grouse, Derge, Klausner, Collins, Wagner, Shenmen, Schuler, Altschul, Zeeberg, Buetow, Schaefer, Bhat, Hopkins, Jordan, Moore, Max, Wang, Hsieh, Diatchenko, Marusina, Farmer et al.: "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. ..." in: Proceedings of the National Academy of Sciences of the United States of America, Vol. 99, Issue 26, pp. 16899-903, (2002) (PubMed).
Aliases for MTMR2 抗体
myotubularin related protein 2 (MTMR2) 抗体 myotubularin related protein 2 (Mtmr2) 抗体 myotubularin related protein 2 (mtmr2) 抗体 6030445P13Rik 抗体 CMT4B 抗体 CMT4B1 抗体 DKFZp459I198 抗体 MTMR2 抗体 zgc:153915 抗体