MTAP wt Allele

Preferred Label : MTAP wt Allele;

NCIt synonyms : MSAP; Methylthioadenosine Phosphorylase wt Allele; c86fus; LGMBF; BDMF; DMSMFH; DMSFH;

NCIt definition : Human MTAP wild-type allele is located in the vicinity of 9p21 and is approximately 230 kb in length. This allele, which encodes S-methyl-5'-thioadenosine phosphorylase protein, is involved in the metabolism of both polyamines and purines. Mutation of the gene is associated with diaphyseal medullary stenosis with malignant fibrous histiocytoma.;

GenBank Accession Number : AB062485;

Details

Origin ID

C103995;

UMLS CUI

C3539706;

Automatic exact mappings (from CISMeF team)
- Canopy fgf signaling regulator 2 [OMIM gene]
- Diaphyseal medullary stenosis with malignant fibrous histiocytoma [OMIM Phenotype]
- Methylthioadenosine phosphorylase [OMIM gene]
- Multiple system atrophy, parkinsonian type [ORDO Disease]
- diaphyseal medullary stenosis with malignant fibrous histiocytoma [MeSH Supplementary Concept]
- methylthioadenosine phosphorylase [ORDO Gene]
OMIM relation
- Methylthioadenosine phosphorylase [OMIM gene]
See also inter- (CISMeF)
- Multiple system atrophy, Parkinsonism [ICD-11 Sub-sub category]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 9p21 [NCIt concept]
gene_is_element_in_pathway
- Cysteine and Methionine Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Amino Acid Biosynthesis [NCIt concept]
- Glycosylation [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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