Biology:Myotubularin
From HandWiki
| Myotubularin-related | |||||||||
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 Structure of a phosphoinositide phosphatase.[1] | |||||||||
| Identifiers | |||||||||
| Symbol | Myotub-related | ||||||||
| Pfam | PF06602 | ||||||||
| InterPro | IPR010569 | ||||||||
| SCOP2 | 1m7r / SCOPe / SUPFAM | ||||||||
| OPM superfamily | 130 | ||||||||
| OPM protein | 1zvr | ||||||||
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Myotubularin domain represents a region within eukaryotic myotubularin-related proteins that is sometimes found with the GRAM domain. Myotubularin is a dual-specific lipid phosphatase that dephosphorylates phosphatidylinositol 3-phosphate and phosphatidylinositol (3,5)-bi-phosphate.[2] Mutations in gene encoding myotubularin-related proteins have been associated with disease.[3]
Human proteins containing this domain
MTM1; MTMR1; MTMR2; MTMR3; MTMR4; MTMR6; MTMR7; MTMR8; MTMR9; MTMR10; MTMR11; MTMR12; MTMR14; SBF1; SBF2;
References
- ↑ "Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome". Mol. Cell 12 (6): 1391–402. December 2003. doi:10.1016/S1097-2765(03)00486-6. PMID 14690594.
- ↑ "Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP". Proc. Natl. Acad. Sci. U.S.A. 100 (15): 8660–8665. 2003. doi:10.1073/pnas.1033097100. PMID 12847286. Bibcode: 2003PNAS..100.8660N.
- ↑ "Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1". Hum. Mol. Genet. 11 (13): 1569–1579. 2002. doi:10.1093/hmg/11.13.1569. PMID 12045210.
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