AMPD3 Gene: Adenosine Monophosphate Deaminase 3
Key regulator of adenine nucleotide metabolism in erythrocytes and muscle
Gene Information Card
| Symbol | AMPD3 |
|---|---|
| Full Name | Adenosine Monophosphate Deaminase 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p15.4 |
| NCBI Gene ID | 272 ncbi.nlm.nih.gov/gene/272 |
| Ensembl ID | ENSG00000133805 |
| UniProt ID | Q01432 |
| OMIM ID | 102772 |
| HGNC ID | 470 |
| Aliases | AMP deaminase 3, erythrocyte AMP deaminase, myoadenylate deaminase (isoform E) |
Description
The AMPD3 gene encodes the erythrocyte (E) isoform of adenosine monophosphate deaminase (AMPD), which catalyzes the deamination of AMP to IMP in the purine nucleotide cycle. This enzyme is critical for regulating adenine nucleotide pools in red blood cells and, to a lesser extent, in muscle. Mutations in AMPD3 are associated with erythrocyte AMP deaminase deficiency, leading to hemolytic anemia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Erythrocyte AMP deaminase deficiency | Loss-of-function mutations reduce AMP deaminase activity, causing accumulation of AMP and ATP depletion in red blood cells | ClinVar, OMIM #102772 |
| Hemolytic anemia | Impaired nucleotide metabolism leads to reduced red blood cell lifespan and hemolysis | ClinVar, PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Low |
| Heart | 8.3 | Low |
| Spleen | 45.2 | Medium |
| Bone marrow | 62.1 | High |
| Whole blood | 78.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (erythroleukemia) | 85.3 | High expression consistent with erythroid lineage |
| HL-60 (promyeloblast) | 22.1 | Moderate expression |
| HeLa (cervical carcinoma) | 5.6 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1337G>A (p.Arg446His) | Missense | Rare (0.1% in gnomAD) | Reduced enzyme activity; associated with hemolytic anemia |
| c.1A>G (p.Met1?) | Start loss | Very rare | Loss of protein expression; pathogenic in ClinVar |
| c.1042C>T (p.Arg348Trp) | Missense | Rare | Decreased catalytic activity; reported in erythrocyte AMP deaminase deficiency |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish AMP deaminase activity, leading to erythrocyte AMP deaminase deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported in AMPD3.
Dominant Negative (DN)
No dominant-negative effects documented; deficiency is typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003876 - AMP deaminase activity | • GO:0005737 - cytoplasm |
| • GO:0005829 - cytosol | • GO:0006144 - purine nucleobase metabolic process |
| • GO:0009168 - purine ribonucleoside monophosphate catabolic process |
Pathways
• Purine metabolism (KEGG: hsa00230)
• Adenine nucleotide degradation (Reactome: R-HSA-74217)
Protein Summary
AMPD3 encodes the erythrocyte isoform of AMP deaminase, a homotetrameric enzyme that converts AMP to IMP. The protein is predominantly expressed in red blood cells and bone marrow, with lower levels in muscle. It plays a key role in maintaining adenine nucleotide balance; deficiency leads to hemolytic anemia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AMPD3 Knockout HEK293 Cell Line | EDJ-KQ4053 | Human | 272 | Details Get a Quote |
| AMPD3 Knockout HeLa Cell Line | EDJ-KQ25074 | Human | 272 | Details Get a Quote |
| AMPD3 Knockout A-549 Cell Line | EDJ-KQ26408 | Human | 272 | Details Get a Quote |
| AMPD3 Knockout HCT 116 Cell Line | EDJ-KQ26409 | Human | 272 | Details Get a Quote |
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