AMPD1 Gene (Adenosine Monophosphate Deaminase 1)
Key regulator of purine metabolism and skeletal muscle energy homeostasis
Gene Information Card
| Symbol | AMPD1 |
|---|---|
| Full Name | Adenosine Monophosphate Deaminase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p13.2 |
| NCBI Gene ID | 270 ncbi.nlm.nih.gov/gene/270 |
| Ensembl ID | ENSG00000116337 |
| UniProt ID | P23109 |
| OMIM ID | 102770 |
| HGNC ID | 468 |
| Aliases | MADA, AMPD, AMP deaminase |
Description
The AMPD1 gene encodes the muscle-specific isoform of adenosine monophosphate deaminase (AMPD), an enzyme that catalyzes the deamination of AMP to IMP and ammonia. This reaction is a key step in purine nucleotide metabolism and helps regulate the adenylate energy charge in skeletal muscle. Deficiency of AMPD1 is the most common cause of metabolic myopathy and exercise intolerance in humans.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Myopathy due to AMP deaminase deficiency | Loss-of-function mutations in AMPD1 reduce AMP deaminase activity, impairing purine nucleotide cycling and ATP regeneration during exercise. This leads to exercise-induced muscle pain, cramps, and fatigue. | ClinVar, OMIM |
| Exercise intolerance | Reduced AMP deaminase activity disrupts the purine nucleotide cycle, limiting the ability to sustain high-intensity muscle contraction. | NCBI Gene, OMIM |
| Cardiomyopathy (dilated) | Some studies suggest AMPD1 variants may contribute to dilated cardiomyopathy through altered energy metabolism in cardiac muscle. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 120.5 | High |
| Heart | 45.2 | Medium |
| Brain | 8.3 | Low |
| Liver | 2.1 | Not detected |
| Kidney | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Skeletal muscle myocytes | 150.0 | Primary cell type |
| Cardiomyocytes | 50.0 | Moderate expression |
| Fibroblasts | 0.5 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.34C>T (p.Gln12*) | Nonsense | ~2% in European populations | Loss of function; introduces premature stop codon, leading to nonsense-mediated decay or truncated protein |
| c.143C>T (p.Pro48Leu) | Missense | Rare | Reduced enzyme activity; associated with AMP deaminase deficiency |
| c.404A>G (p.Tyr135Cys) | Missense | Rare | Decreased catalytic efficiency |
Mutation functional classification
Loss of Function (LOF)
Most common; nonsense and missense mutations reduce or abolish AMP deaminase activity, leading to AMP deaminase deficiency.
Gain of Function (GOF)
Not reported for AMPD1.
Dominant Negative (DN)
Not reported; deficiency is typically autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • AMP deaminase activity | • IMP biosynthetic process |
| • purine nucleotide catabolic process | • AMP metabolic process |
| • muscle contraction |
Pathways
• Purine metabolism (KEGG: hsa00230)
• Adenine and adenosine salvage pathway
Protein Summary
The AMPD1 protein is a 747-amino acid enzyme that forms a homotetramer. It catalyzes the irreversible deamination of AMP to IMP and ammonia, a critical step in the purine nucleotide cycle. This cycle helps maintain ATP levels during intense muscle activity by regenerating AMP from IMP and providing intermediates for the tricarboxylic acid cycle. The enzyme is highly expressed in skeletal muscle and to a lesser extent in heart. Deficiency leads to exercise intolerance and myopathy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AMPD1 Knockout HEK293 Cell Line | EDJ-KQ12342 | Human | 270 | Details Get a Quote |
| AMPD1 Knockout HeLa Cell Line | EDJ-KQ52609 | Human | 270 | Details Get a Quote |
| AMPD1 Knockout A-549 Cell Line | EDJ-KQ61088 | Human | 270 | Details Get a Quote |
| AMPD1 Knockout HCT 116 Cell Line | EDJ-KQ69571 | Human | 270 | Details Get a Quote |
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