Entity Details
Details
PrimaryID | 272 |
RefseqGene | NG_012041 |
Symbol | AMPD3 |
Name | adenosine monophosphate deaminase 3 |
Chromosome | 11 |
Location | 11p15.4 |
TaxID | 9606 |
Status | live |
SourceGenome | genomic |
SourceOrigin | natural |
CreationDate | 1997-11-18 |
ModificationDate | 2021-06-11 |
Diseases
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Disease ID | Source | Name | Description |
612874 | OMIM | Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) | A metabolic disorder due to lack of activity of the erythrocyte isoform of AMP deaminase. It is a clinically asymptomatic condition characterized by a 50% increase in steady-state levels of ATP in affected cells. Individuals with complete deficiency of erythrocyte AMP deaminase are healthy and have no hematologic disorders. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
9 interactions