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Immunogen sequence: MASASTSKY NSHSLENESI KRTSRDGVNR DLTEAVPRLP GETLITDKEV IYICPFNGPI KGRVYITNYR LYLRSLETDS SLILDVPLGV ISRIEKMGGA TSRGENSYGL DITCKDMRNL RFALKQEGHS RRDMFEILTR YAFPLAHSLP LFAFLNEEKF NVDGWTVYNP VEEYRRQGLP NHHWRITFIN KCYELCDTYP ALLVVPYRAS DDDLRRVATF RSRNRIPVLS WIHPENKTVI VRCSQPLVGM SGKRNKDDEK YLDVIRETNK QISKLTIYDA RPSVNAVANK ATGGGYESDD AYHNAELFFL DIHNIHVMRE SLKKVKDIVY PNVEESHWLS SLESTHWLEH IKLVLTGAIQ VAD (1-362 aa encoded by BC030779)
Human MTM1, a 603 amino-acid protein, is mutated in myotubular myopathy. The largely related protein hMTMR2 is found mutated in a recessive form of Charcot-Marie-tooth neuropathy. Myotubularin is primarily a lipid phosphatase that acts on hosphatidylinositol 3-monophosphate and is involved in the regulation of the phosphatidylinositol 3-kinase (PI 3-kinase) pathway and membrane trafficking. Wildtype myotubularin can directly dephosphorylate PI 3-P and PI 4-P in vitro. Thus, it decreases PI 3-P levels by down-regulating PI 3-K activity and by facilitating the degradation of PI 3-P.
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; Phosphatidylinositol-3,5-bisphosphate 3-phosphatase; Phosphatidylinositol-3-phosphate phosphatase; X-linked myotubular myopathy gene 1
基因别名: AF073996; CG2; CNM; mKIAA4176; Mtm; MTM1; MTMX; XLMTM
UniProt ID: (Human) Q13496, (Rat) Q6AXQ4, (Mouse) Q9Z2C5
Entrez Gene ID: (Human) 4534, (Rat) 288762, (Mouse) 17772
分子生物学功能: phosphatase