Myotubularin
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| Myotubularin-related | ||
|---|---|---|
| Identifiers | ||
| Symbol | Myotub-related | |
| Pfam | PF06602 | |
| InterPro | IPR010569 | |
| SCOP | 1m7r | |
| OPM protein | 1zvr | |
| Available PDB structures: | ||
Myotubularin domain represents a region within eukaryotic myotubularin-related proteins that is sometimes found with IPR004182. Myotubularin is a dual-specific lipid phosphatase that dephosphorylates phosphatidylinositol 3-phosphate and phosphatidylinositol (3,5)-bi-phosphate[1]. Mutations in gene encoding myotubularin-related proteins have been associated with disease[2].
[edit] Human proteins containing this domain
MTM1; MTMR1; MTMR10; MTMR11; MTMR12; MTMR2; MTMR3; MTMR4; MTMR6; MTMR7; MTMR8; MTMR9; SBF1; SBF2;
[edit] References
- ^ Majerus PW, Nandurkar HH, Layton M, Laporte J, Selan C, Corcoran L, Caldwell KK, Mochizuki Y, Mitchell CA (2003). "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. doi:. PMID 12847286.
- ^ Suter U, Berger P, Bonneick S, Willi S, Wymann M (2002). "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. doi:. PMID 12045210.
[edit] External links
This article includes text from the public domain Pfam and InterPro IPR010569
