| Description : |
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. |
| Source : |
HEK293 |
| Species : |
Human |
| Tag : |
Myc/DDK |
| Molecular Mass : |
73.4 kDa |
| AA Sequence : |
METSSSCESLGSQPAAARPPSVDSL SSASTSHSENSVHTKSASVVSSDSI STSADNFSPDLRVLRESNKLAEMEE PPLLPGENIKDMAKDVTYICPFTGA VRGTLTVTNYRLYFKSMERDPPFVL DASLGVINRVEKIGGASSRGENSYG LETVCKDIRNLRFAHKPEGRTRRSI FENLMKYAFPVSNNLPLFAFEYKEV FPENGWKLYDPLLEYRRQGIPNESW RITKINERYELCDTYPALLVVPANI PDEELKRVASFRSRGRIPVLSWIHP ESQATITRCSQPMVGVSGKRSKEDE KYLQAIMDSNAQSHKIFIFDARPSV NAVANKAKGGGYESEDAYQNAELVF LDIHNIHVMRESLRKLKEIVYPNIE ETHWLSNLESTHWLEHIKLILAGAL RIADKVESGKTSVVVHCSDGWDRTA QLTSLAMLMLDGYYRTIRGFEVLVE KEWLSFGHRFQLRVGHGDKNHADAD RSPVFLQFIDCVWQMTRQFPTAFEF NEYFLITILDHLYSCLFGTFLCNSE QQRGKENLPKRTVSLWSYINSQLED FTNPLYGSYSNHVLYPVASMRHLEL WVGYYIRWNPRMKPQEPIHNRYKEL LAKRAELQKKVEELQREISNRSTSS SERASSPAQCVTPVQTVVTRTRPLE QKLISEEDLAANDILDYKDDDDKV |
| Purity : |
> 80% as determined by SDS-PAGE and Coomassie blue staining |
| Stability : |
Stable for 3 months from receipt of products under proper storage and handling conditions. |
| Storage : |
Store at -80 centigrade. Avoid repeated freeze-thaw cycles. |
| Concentration : |
50 μg/mL as determined by BCA |
| Storage Buffer : |
100 mM glycine, 25 mM Tris-HCl, pH 7.3. |
