MTMR2 wt Allele

Preferred Label : MTMR2 wt Allele;

NCIt synonyms : Phosphoinositide-3-Phosphatase Gene; CMT4B; KIAA1073; CMT4B1; Phosphatidylinositol-3-Phosphatase Gene; Myotubularin Related Protein 2 wt Allele;

NCIt definition : Human MTMR2 wild-type allele is located in the vicinity of 11q21 and is approximately 104 kb in length. This allele, which encodes myotubularin-related protein 2, plays a role in dephosphorylation of phosphatidylinositol phosphates. Mutation of the gene is associated with Charcot-Marie-Tooth disease type 4B1.;

NCI Metathesaurus CUI : CL1927555;

GenBank Accession Number : U58033;

Details

Origin ID

C205278;

OMIM relation
- Myotubularin-related protein 2 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Inositol Phosphate Metabolism Pathway [NCIt concept]
- Phosphatidylinositol Signaling System Pathway [NCIt concept]
gene_plays_role_in_process
- Dephosphorylation [NCIt concept]
- Hydrolysis [NCIt concept]
- Phospholipid Metabolism [NCIt concept]
- Signal Transduction [NCIt concept]

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