| Protein Name | adenosine monophosphate deaminase 3 |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 272 |
| Gene Symbol | AMPD3 |
| UniProt | Q01432 (AMPD3_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
28
Total Number of Articles : 25 |
Description |
adenosine monophosphate deaminase 3 |
| Gene Summary |
This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoforms, whereas other family members encode isoforms that predominate in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008] |
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