AMPD3 explained

AMP deaminase 3 is an enzyme that in humans is encoded by the AMPD3 gene.^{[1] [2]}

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.^[2]

Further reading

• Zydowo MM . Regulatory effects of the lipid-cytosolic enzyme interaction: AMP deaminase . Acta Biochimica Polonica . 40 . 4 . 429–32 . 1994 . 8140814 . 10.18388/abp.1993_4780. free .
• Yamada Y, Goto H, Ogasawara N . Cloning and nucleotide sequence of the cDNA encoding human erythrocyte-specific AMP deaminase . Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression . 1171 . 1 . 125–8 . November 1992 . 1420359 . 10.1016/0167-4781(92)90153-Q .
• Ogasawara N, Goto H, Yamada Y, Nishigaki I, Itoh T, Hasegawa I, Park KS . Deficiency of AMP deaminase in erythrocytes . Human Genetics . 75 . 1 . 15–8 . January 1987 . 3804327 . 10.1007/BF00273831 . 13377262 .
• Yamada Y, Goto H, Murase T, Ogasawara N . Molecular basis for human erythrocyte AMP deaminase deficiency: screening for the major point mutation and identification of other mutations . Human Molecular Genetics . 3 . 12 . 2243–5 . December 1994 . 7881427 . 10.1093/hmg/3.12.2243 .
• Yamada Y, Goto H, Ogasawara N . A point mutation responsible for human erythrocyte AMP deaminase deficiency . Human Molecular Genetics . 3 . 2 . 331–4 . February 1994 . 8004104 . 10.1093/hmg/3.2.331 .
• Mahnke-Zizelman DK, Eddy R, Shows TB, Sabina RL . Characterization of the human AMPD3 gene reveals that 5' exon usage is subject to transcriptional control by three tandem promoters and alternative splicing . Biochimica et Biophysica Acta . 1306 . 1 . 75–92 . April 1996 . 8611627 . 10.1016/0167-4781(95)00231-6 .
• Fortuin FD, Morisaki T, Holmes EW . Subunit composition of AMPD varies in response to changes in AMPD1 and AMPD3 gene expression in skeletal muscle . Proceedings of the Association of American Physicians . 108 . 4 . 329–33 . July 1996 . 8863347 .
• Mahnke-Zizelman DK, D'cunha J, Wojnar JM, Brogley MA, Sabina RL . Regulation of rat AMP deaminase 3 (isoform C) by development and skeletal muscle fibre type . The Biochemical Journal . 326 (Pt 2) . 2 . 521–9 . September 1997 . 9291127 . 1218700 . 10.1042/bj3260521.
• Yamada Y, Goto H, Wakamatsu N, Ogasawara N . A rare case of complete human erythrocyte AMP deaminase deficiency due to two novel missense mutations in AMPD3 . Human Mutation . 17 . 1 . 78 . 2001 . 11139257 . 10.1002/1098-1004(2001)17:1<78::AID-HUMU21>3.0.CO;2-B . 13267360 . free .
• Mahnke-Zizelman DK, Sabina RL . N-terminal sequence and distal histidine residues are responsible for pH-regulated cytoplasmic membrane binding of human AMP deaminase isoform E . The Journal of Biological Chemistry . 277 . 45 . 42654–62 . November 2002 . 12213808 . 10.1074/jbc.M203473200 . 25657474 . free .
• Tomikura Y, Hisatome I, Tsuboi M, Yamawaki M, Shimoyama M, Yamamoto Y, Sasaki N, Ogino K, Igawa O, Shigemasa C, Ishiguro S, Ohgi S, Nanba E, Shiota G, Morisaki H, Morisaki T, Kitakaze M . Coordinate induction of AMP deaminase in human atrium with mitochondrial DNA deletion . Biochemical and Biophysical Research Communications . 302 . 2 . 372–6 . March 2003 . 12604357 . 10.1016/S0006-291X(03)00160-8 . 2020-09-01 . 2022-03-13 . https://web.archive.org/web/20220313154521/https://repository.lib.tottori-u.ac.jp/files/public/0/4382/20180622150527570320/G11_15101A00481R.pdf . dead .
• Mahnke DK, Sabina RL . Calcium activates erythrocyte AMP deaminase [isoform E (AMPD3)] through a protein-protein interaction between calmodulin and the N-terminal domain of the AMPD3 polypeptide . Biochemistry . 44 . 14 . 5551–9 . April 2005 . 15807549 . 10.1021/bi048121p .
• Sabina RL, Waldenström A, Ronquist G . The contribution of Ca+ calmodulin activation of human erythrocyte AMP deaminase (isoform E) to the erythrocyte metabolic dysregulation of familial phosphofructokinase deficiency . Haematologica . 91 . 5 . 652–5 . May 2006 . 16670071 .

Notes and References

1. Mahnke-Zizelman DK, Sabina RL . 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 . October 1992 . 10.1016/S0021-9258(19)36768-7 . 1400401 . free .
2. Web site: Entrez Gene: AMPD3 adenosine monophosphate deaminase (isoform E).