Myotubularin-related protein 2 also known as phosphatidylinositol-3,5-bisphosphate 3-phosphatase or phosphatidylinositol-3-phosphate phosphatase is a protein that in humans is encoded by the MTMR2 gene.[5][6][7][8]
This gene is a member of the myotubularin family and encodes a putative tyrosine phosphatase. The protein also contains a GRAM domain.[5] 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, but the biological validity of some variants has not been determined.[8]
MTMR2 has been shown to interact with SBF1.[9]
PDB gallery
| |
---|---|
1lw3: Crystal Structure of Myotubularin-related protein 2 complexed with phosphate
1m7r: Crystal Structure of Myotubularin-related Protein-2 (MTMR2) Complexed with Phosphate
1zsq: Crystal Structure of MTMR2 in complex with phosphatidylinositol 3-phosphate
1zvr: Crystal Structure of MTMR2 in complex with phosphatidylinositol 3,5-bisphosphate
|
| |||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Class I |
| ||||||||||||||||||||||
Class II |
| ||||||||||||||||||||||
Class III |
| ||||||||||||||||||||||
Class IV |
|
![]() | This article on a gene on human chromosome 11 is a stub. You can help Wikipedia by expanding it. |