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The protein encoded by AMPD2 is important in purine metabolism by converting AMP to IMP. Additionally we are shipping AMPD2 Antibodies (58) and AMPD2 Kits (2) and many more products for this protein.
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Here we report the clinical and genetic analysis of an individual with PCH9 secondary to a novel missense variant with strong evidence of pathogenicity, located outside the catalytic domain of AMPD2
tofacitinib increases the cellular levels of adenosine, which is known to have anti-inflammatory activity, through the downregulation of AMPD2. This would be a novel functional aspect of tofacitinib.
In human HepG2 cells, AMPD2 activation counterregulates AMPK and increases intracellular glucose production, in association with up-regulation of PEPCK and G6Pc.
Study concluded that AMPD2 as necessary for guanine nucleotide biosynthesis and protein translation and provide evidence that AMP deaminase activity is critical during neurogenesis. Patients with mutations in AMPD2 have characteristic brain imaging features of pontocerebellar hypoplasia due to loss of brainstem and cerebellar parenchyma.
N-terminal extensions of the AMPD2 polypeptide influence ATP regulation of isoform L.
This is a first report evidencing the pattern of AMPD genes expression in neoplastic human liver.
A novel mouse model of transient hypercholesterolemia with concurrent nephrotic syndrome associated with defective Ampd2 function.
In diabetic mice, AMPD2 activation counterregulates AMPK and increases hepatic glucose production, in association with up-regulation of PEPCK and G6Pc.
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.
adenosine monophosphate deaminase 2
, AMP deaminase 2-like
, AMP deaminase 2
, adenosine monophosphate deaminase 2 (isoform L)