Gene Symbol: Ampd2
Description: adenosine monophosphate deaminase 2
Alias: Ampd, AMP deaminase 2, adenosine monophosphate deaminase 2 (isoform L)
Juan T, Veniant M, Helmering J, Babij P, Baker D, Damore M, et al
. Identification of three loci affecting HDL-cholesterol levels in a screen for chemically induced recessive mutations in mice. J Lipid Res. 2009;50:534-45 pubmed publisher
..These results illustrate the use of a hybrid background for simultaneous screening and mapping of mutagenized pedigrees of mice and identification of three novel alleles of HDL-cholesterol phenotypes...
Toyama K, Morisaki H, Cheng J, Kawachi H, Shimizu F, Ikawa M, et al
. Proteinuria in AMPD2-deficient mice. Genes Cells. 2012;17:28-38 pubmed publisher
The AMPD2 gene, a member of the AMPD gene family encoding AMP deaminase, is widely expressed in nonmuscle tissues including kidney, although its functions have not been fully elucidated...
Akizu N, Cantagrel V, Schroth J, Cai N, Vaux K, McCloskey D, et al
. AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. Cell. 2013;154:505-17 pubmed publisher
..early-onset neurodegenerative condition resulting from mutations in the adenosine monophosphate deaminase 2 gene (AMPD2)...
Bausch Jurken M, Mahnke Zizelman D, Morisaki T, Sabina R. Molecular cloning of AMP deaminase isoform L. Sequence and bacterial expression of human AMPD2 cDNA. J Biol Chem. 1992;267:22407-13 pubmed
Human AMPD2 cDNA clones have been isolated from T-lymphoblast and placental lambda gt11 libraries utilizing a previously cloned rat partial AMPD2 cDNA as the probe...
Ashby B, Holmsen H. Platelet AMP deaminase. Purification and kinetic studies. J Biol Chem. 1981;256:10519-23 pubmed
..Addition of increasing concentrations of GTP in the presence of NaCl led to activation followed by inhibition whereas GTP in the presence of KCl gave inhibition with no apparent activation. ..
Mahnke Zizelman D, Tullson P, Sabina R. Novel aspects of tetramer assembly and N-terminal domain structure and function are revealed by recombinant expression of human AMP deaminase isoforms. J Biol Chem. 1998;273:35118-25 pubmed
Morisaki T, Sabina R, Holmes E. Adenylate deaminase. A multigene family in humans and rats. J Biol Chem. 1990;265:11482-6 pubmed
..ampd1 is expressed at high levels in skeletal muscle of the adult rat. ampd2 is the predominant gene expressed in non-muscle tissues and smooth muscle of the adult rat, and it is also the ..
Mahnke Zizelman D, D Cunha J, Wojnar J, Brogley M, Sabina R. Regulation of rat AMP deaminase 3 (isoform C) by development and skeletal muscle fibre type. Biochem J. 1997;326 ( Pt 2):521-9 pubmed
..Highly conserved rat and human AMPD1 and AMPD2 genes produce protein products that exhibit cross-species immunoreactivities (AMPD1, rat isoform A and human ..
Helmering J, Juan T, Li C, Chhoa M, Baron W, Gyuris T, et al
. A mutation in Ampd2 is associated with nephrotic syndrome and hypercholesterolemia in mice. Lipids Health Dis. 2014;13:167 pubmed publisher
..We identify the third gene as Ampd2, a liver isoform of AMP Deaminase (Ampd), a central component of energy and purine metabolism pathways...