AMP deaminase 3 is an enzyme that in humans is encoded by the AMPD3 gene.[5][6]
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.[6]
^ abcGRCh38: Ensembl release 89: ENSG00000133805 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000005686 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Mahnke-Zizelman DK, Sabina RL (October 1992). "Cloning of human AMP deaminase isoform E cDNAs. Evidence for a third AMPD gene exhibiting alternatively spliced 5'-exons". The Journal of Biological Chemistry. 267 (29): 20866–77. doi:10.1016/S0021-9258(19)36768-7. PMID 1400401.
AMP deaminase 3 is an enzyme that in humans is encoded by the AMPD3 gene. This gene encodes a member of the AMP deaminase gene family. The encoded protein...
protein interaction program predicted BOD1L2, FAM200A, CCT8L2, OR9G1, and AMPD3 interact with FAM71E2. BOD1L2 may have a role in biorientation via mitotic...
purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythrocyte-specific isoforms, respectively. Deficiency...