AMPD1 wt Allele

Preferred Label : AMPD1 wt Allele;

NCIt synonyms : Skeletal Muscle AMPD Gene; MAD; AMP Deaminase Gene; MADA; Adenosine Monophosphate Deaminase-1 (Muscle) Gene; Adenosine Monophosphate Deaminase 1 wt Allele; Adenosine Monophosphate Deaminase 1 (Isoform M) Gene; AMP Deaminase 1 Gene; MMDD;

NCIt definition : Human AMPD1 wild-type allele is located in the vicinity of 1p13.2 and is approximately 23 kb in length. This allele, which encodes AMP deaminase 1 protein, plays a role in purine metabolism in skeletal muscle cells. Mutation of the gene is associated with myopathy due to myoadenylate deaminase deficiency.;

NCI Metathesaurus CUI : CL1905438;

GenBank Accession Number : M60092;

Details

Origin ID

C191930;

UMLS CUI

C5781200;

Automatic exact mappings (from CISMeF team)
- Mandibuloacral dysplasia [ORDO Disease]
OMIM relation
- Adenosine monophosphate deaminase 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1p13.2 [NCIt concept]
gene_is_element_in_pathway
- Purine Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Energy Metabolism Process [NCIt concept]
- Hydrolysis [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]

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