AMPD3, Official Symbol AMPD3provided by HGNC Official Full Name adenosine monophosphate deaminase 3provided by HGNC Primary source HGNC:HGNC:470 See related Ensembl:ENSG00000133805 MIM:102772; AllianceGenome:HGNC:470 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo 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] Expression Broad expression in bone marrow (RPKM 15.7), appendix (RPKM 8.4) and 22 other tissues See more Orthologs mouse all