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Immunogen sequence: DKVESGKTSV VVHCSDGWDR TAQLTSLAML MLDGYYRTIR GFEVLVEKEW LSFGHRFQLR VGHGDKNHAD ADRSPVFLQF IDCVWQMTRQ FPTAFEFNEY FLITILDHLY SCLFGTFLCN SEQQRGKENL PKRTVSLWSY INSQLEDFTN PLYGSYSNHV LYPVASMRHL ELWVGYYIRW NPRMKPQEPI HNRYKELLAK RAELQKKVEE LQREISNRST SSSERASSPA QCVTPVQTVV; Positive Samples: HeLa, Jurkat, U-87MG, Mouse brain, Mouse kidney, Mouse liver, Rat liver; Cellular Location: Cytoplasm, Early endosome membrane, Peripheral membrane protein
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 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
基因别名: 6030445P13Rik; CMT4B; CMT4B1; KIAA1073; MTMR2
UniProt ID: (Human) Q13614, (Mouse) Q9Z2D1
Entrez Gene ID: (Human) 8898, (Mouse) 77116, (Rat) 315422