Myoadenylate deaminase

AMPD1
Identifiers
Aliases	AMPD1, MAD, MADA, MMDD, adenosine monophosphate deaminase 1
External IDs	MGI: 88015 HomoloGene: 20 GeneCards: AMPD1
Gene ontology Molecular function • hydrolase activity • myosin heavy chain binding • metal ion binding • deaminase activity • AMP deaminase activity Cellular component • cytosol Biological process • response to organic substance • IMP salvage • nucleotide metabolic process • purine-containing compound salvage • purine ribonucleoside monophosphate biosynthetic process Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	270	229665
Ensembl	ENSG00000116748	ENSMUSG00000070385
UniProt	P23109	Q3V1D3
RefSeq (mRNA)	NM_001172626 NM_000036	NM_001033303
RefSeq (protein)	NP_000027 NP_001166097	NP_001028475.2 NP_001028475
Location (UCSC)	Chr 1: 114.67 – 114.7 Mb	Chr 3: 103.07 – 103.1 Mb
PubMed search

270

229665

ENSG00000116748

ENSMUSG00000070385

P23109

Q3V1D3

NM_001172626
NM_000036

NM_001033303

NP_000027
NP_001166097

NP_001028475.2
NP_001028475

AMP deaminase 1 is an enzyme that in humans is encoded by the AMPD1 gene.

Adenosine monophosphate deaminase is an enzyme that converts adenosine monophosphate (AMP) to inosine monophosphate (IMP), freeing an ammonia molecule in the process.

Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythrocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human.

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