Adenosine monophosphate deaminase 1

Preferred Label : Adenosine monophosphate deaminase 1;

Symbol : AMPD1;

CISMeF acronym : AMPD1;

Type : Gene;

Alternative titles and symbols : Amp deaminase; Myoadenylate deaminase;

Description : Adenosine monophosphate deaminase-1 (AMPD1; EC 3.5.4.6), also known as myoadenylate deaminase, catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle.;

Ensembl ID : ENSG00000116748;

Prefixed ID : *102770;

Details

Origin ID

102770;

UMLS CUI

C1412387;

Automatic exact mappings (from CISMeF team)
- AMP deaminase [MeSH concept]
- AMPD1 gene [LOINC component]
- Adenosine monophosphate deaminase [LOINC component]
- Adenosine monophosphate deaminase (substance) [SNOMED CT concept]
- adenosine monophosphate deaminase 1 [ORDO Gene]
- adenosine monophosphate deaminase 1 [HGNC gene]
- amp deaminase [SNOMED Notion]
- amp deaminase [MeSH Descriptor]
Broader ORDO disease(s)
- Adenosine monophosphate deaminase deficiency [ORDO Disease]
HGNC gene
- adenosine monophosphate deaminase 1 [HGNC gene]
NCIt concept(s)
- AMP Deaminase 1 [NCIt concept]
- AMPD1 Gene [NCIt concept]
- AMPD1 wt Allele [NCIt concept]
ORDO concept(s)
- adenosine monophosphate deaminase 1 [ORDO Gene]
Phenotypes related
- Myopathy due to myoadenylate deaminase deficiency [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- AMPD1 Gene [NCIt concept]
- AMPD1 gene [LOINC component]
- adenosine monophosphate deaminase 1 [HGNC gene]

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