adenosine monophosphate deaminase-1 (AMP deaminase isoform M, myoadenylate deaminase, AMPD1)

Function

• AMP deaminase plays a critical role in energy metabolism
• catalyzes the hydrolytic deamination of AMP into IMP
• purine nucleotide cycle

AMP + H2O <--> IMP + NH3

Structure

• homotetramer
• belongs to the adenosine & AMP deaminases family

Expression

• predominant form in skeletal muscle

Pathology

• defects in AMPD1 are the cause of AMP deaminase deficiency

Laboratory

• AMPD1 gene mutation

More general terms

• adenosine monophosphate [AMP] deaminase

Database

• UniProt: http://www.uniprot.org/uniprot/P23109.html
• OMIM: https://mirror.omim.org/entry/102770
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=270