MTMR2
myotubularin related protein 2
Sinónimos:
CMT4B, CMT4B1
Especie:
Human MTMR2 (8898), Mouse Mtmr2 (77116), Rat Mtmr2 (315422), naked mole-rat Mtmr2 (101718842), domestic guinea pig Mtmr2 (100720535), Horse MTMR2 (100067900), dog MTMR2 (606918), Zebrafish mtmr2 (30644), chicken MTMR2 (418992), sheep MTMR2 (101123404) ...Más
ID UniProtKB:
ID del gen:
- Human(8898) Summary: 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. [provided by RefSeq, Aug 2011]
- Mouse(77116) myotubularin related protein 2
- Rat(315422) myotubularin related protein 2
- naked mole-rat(101718842) myotubularin related protein 2
- domestic guinea pig(100720535) myotubularin related protein 2
- Horse(100067900) myotubularin related protein 2
- dog(606918) myotubularin related protein 2
- Zebrafish(30644) myotubularin related protein 2
- chicken(418992) myotubularin related protein 2
- sheep(101123404) myotubularin related protein 2
- Domestic Rabbit(100352381) myotubularin related protein 2
- cow(536810) myotubularin related protein 2
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