Species: Hu, Rt
Applications: WB, ELISA
Host: Mouse Monoclonal
Species: Hu, Mu, Rt, Ca, Pm
Applications: WB
Host: Mouse monoclonal
Species: Hu
Applications: ICC/IF, IHC
Host: Rabbit Polyclonal
Species: Hu
Applications: WB
Species: Hu
Applications: WB
Species: Hu
Applications: WB, ELISA, MA, AP
Species: Hu
Applications: AC
Description
MTMR2 is a member of the myotubularin family and encodes a putative tyrosine phosphatase. 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 for this gene, but the protein products of some of these variants are likely not viable, as they are nonsense-mediated mRNA decay (NMD) candidates.
Bioinformatics
Entrez |
Human |
Uniprot |
Human Human Human Human Human |
Product By Gene ID |
8898 |
Alternate Names |
- CMT4B
- CMT4B1
- EC 3.1.3
- EC 3.1.3.2
- EC 3.1.3.48
- KIAA1073EC 3.1.3.-
- myotubularin related protein 2
- myotubularin-related protein 2
|
Research Areas for MTMR2
Find related products by research area and learn more about each of the different research areas below.
CancerProtein Phosphatase