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AMPD3 is 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.
Gene Name: | adenosine monophosphate deaminase 3 |
Synonyms: | AMPD3, AMP deaminase 3, AMP aminohydrolase, Erythrocyte type AMP deaminase, AMP deaminase isoform E, Myoadenylate deaminase, Erythrocyte AMP deaminase |
Target Sequences: | NM_000480 NP_000471.1 Q01432 |
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