MTMR1 wt Allele

Preferred Label : MTMR1 wt Allele;

NCIt synonyms : Myotubularin Related Protein 1 wt Allele;

NCIt definition : Human MTMR1 wild-type allele is located in the vicinity of Xq28 and is approximately 72 kb in length. This allele, which encodes myotubularin-related protein 1, is involved in phosphatidylinositol 3-phosphate metabolism. A chromosomal deletion that results in a fusion comprised of exon 4 of the MAMLD1 fused to exon 3 of this gene is associated with X-linked hypospadias type 2.;

NCI Metathesaurus CUI : CL1778786;

GenBank Accession Number : U58032;

Details

Origin ID

C186647;

UMLS CUI

C5575510;

OMIM relation
- Myotubularin-related protein 1 [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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