Aliases for AMPD2 Gene
External Ids for AMPD2 Gene
Previous GeneCards Identifiers for AMPD2 Gene
The protein encoded by this gene is important in purine metabolism by converting AMP to IMP. The encoded protein, which acts as a homotetramer, is one of three AMP deaminases found in mammals. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
GeneCards Summary for AMPD2 Gene
AMPD2 (Adenosine Monophosphate Deaminase 2) is a Protein Coding gene. Diseases associated with AMPD2 include Pontocerebellar Hypoplasia, Type 9 and Spastic Paraplegia 63, Autosomal Recessive. Among its related pathways are ATP/ITP metabolism and Metabolism of nucleotides. Gene Ontology (GO) annotations related to this gene include deaminase activity and AMP deaminase activity. An important paralog of this gene is AMPD3.
UniProtKB/Swiss-Prot Summary for AMPD2 Gene
AMP deaminase plays a critical role in energy metabolism. Catalyzes the deamination of AMP to IMP and plays an important role in the purine nucleotide cycle.