MTM1 wt Allele

Preferred Label : MTM1 wt Allele;

NCIt synonyms : CG2; XLMTM; MTMX; CNMX; Myotubular Myopathy 1 Gene; Myotubularin 1 wt Allele; CNM;

NCIt definition : Human MTM1 wild-type allele is located in the vicinity of Xq28 and is approximately 110 kb in length. This allele, which encodes myotubularin protein, is involved in the dephosphorylation of phospholipids. Mutations in the gene are associated with X-linked centronuclear myopathy.;

NCI Metathesaurus CUI : CL1926478;

GenBank Accession Number : U46024;

Details

Origin ID

C203823;

UMLS CUI

C5890835;

OMIM relation
- Myotubularin [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Xq28 [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]

Keyword's position in hierarchy(ies) :

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