AMPD1

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 erythocyte-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. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]

Description

Adenosine monophosphate deaminase 1

Tissue specificity

Group enriched (skeletal muscle, tongue)

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)

Chromosome

1 (114673090 - 114695618)

Ensembl ID

ENSG00000116748  (ver. 103.38)

Orthologs

Mouse Ampd1: ENSMUSG00000070385

UniProt

P23109

neXtProt

NX_P23109

Human splice variants
Mouse splice variants

Protein structure