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Immunogen sequence: KRSKEDEKY LQAIMDSNAQ SHKIFIFDAR PSVNAVANKA KGGGYESEDA YQNAELVFLD IHNIHVMRES LRKLKEIVYP NIEETHWLSN LESTHWLEHI KLILAGALRI ADKVESGKTS VVVHCSDGWD RTAQLTSLAM LMLDGYYRTI RGFEVLVEKE WLSFGHRFQL RVGHGDKNHA DADRSPVFLQ FIDCVWQMTR QFPTAFEFNE YFLITILDHL YSCLFGTFLC NSEQQRGKEN LPKRTVSLWS YINSQLEDFT NPLYGSYSNH VLYPVASMRH LELWVGYYIR WNPRMKPQEP IHNRYKELLA KRAELQKKVE ELQREISNRS TSSSERASSP AQCVTPVQTV V (294-643 aa encoded by BC052990)
This gene is a member of the myotubularin family. 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. Multiple alternatively spliced transcript variants have been found for this gene.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Myotubularin-related protein 2; phosphatidylinositol-3,5-bisphosphate 3-phosphatase; Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2; phosphatidylinositol-3-phosphatase; Phosphatidylinositol-3-phosphate phosphatase; phosphoinositide-3-phosphatase
Gene Aliases: 6030445P13Rik; CMT4B; CMT4B1; KIAA1073; MTMR2
UniProt ID: (Human) Q13614, (Mouse) Q9Z2D1
Entrez Gene ID: (Human) 8898, (Mouse) 77116, (Rat) 315422
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