Aliases for AMPD3 Gene
External Ids for AMPD3 Gene
Previous GeneCards Identifiers for AMPD3 Gene
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]
GeneCards Summary for AMPD3 Gene
AMPD3 (Adenosine Monophosphate Deaminase 3) is a Protein Coding gene. Diseases associated with AMPD3 include Adenosine Monophosphate Deaminase Deficiency Erythrocyte Type and Adenosine Monophosphate Deaminase 1 Deficiency. Among its related pathways are Purine metabolism (REACTOME) and Innate Immune System. GO annotations related to this gene include deaminase activity and AMP deaminase activity. An important paralog of this gene is AMPD1.
UniProtKB/Swiss-Prot for AMPD3 Gene
AMP deaminase plays a critical role in energy metabolism.