Entity Details

Primary name AMPD1
Entity type gene
Source Source Link

Details

PrimaryID270
RefseqGeneNG_008012
SymbolAMPD1
Nameadenosine monophosphate deaminase 1
Chromosome1
Location1p13.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1993-02-17
ModificationDate2021-06-19

Ontological Relatives

UniProt IDsAMPD1_HUMAN

GO terms

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GOName
GO:0003876 AMP deaminase activity
GO:0005829 cytosol
GO:0006188 IMP biosynthetic process
GO:0010033 response to organic substance
GO:0032036 myosin heavy chain binding
GO:0032264 IMP salvage
GO:0042802 identical protein binding
GO:0043101 purine-containing compound salvage
GO:0046033 AMP metabolic process
GO:0046872 metal ion binding

Diseases

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Disease IDSourceNameDescription
615511 OMIMMyopathy due to myoadenylate deaminase deficiency (MMDD)A metabolic disorder resulting in exercise-related myopathy. It is characterized by exercise-induced muscle aches, cramps, and early fatigue. The disease is caused by variants affecting the gene represented in this entry.

Interactions

15 interactions