MTMR2
Sign in to saveAlso known as CMT4B, CMT4B1, myotubularin related protein 2
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.
Gene data
MTMR2- Name
- myotubularin related protein 2
- Type
- protein-coding
- Aliases
- CMT4B, CMT4B1
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].
via MyGene.info
Gene · Ensembl
myotubularin related protein 2
- Symbol
- MTMR2
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 11:95,821,766-95,925,315
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Image
- Protein MTMR2 PDB 1lw3.png
Show 5 more facts
- HomoloGene ID
- 22951
- genomic start
- 95821766
- exact match
- identifiers.org/ncbigene/8898
- genomic end
- 95658479
- cytogenetic location
- 11q21
via Wikidata · CC0
~1 min read
Article
5 sectionsContents
- Function
- Interactions
- References
- Further reading
- External links
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.
== Function ==