AMPD2 Antibody

1. 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 PMID: 28168832
2. 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. PMID: 25496463
3. In human HepG2 cells, AMPD2 activation counterregulates AMPK and increases intracellular glucose production, in association with up-regulation of PEPCK and G6Pc. PMID: 24755741
4. 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. PMID: 23911318
5. N-terminal extensions of the AMPD2 polypeptide influence ATP regulation of isoform L. PMID: 12745092

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HGNC: 469

OMIM: 102771

KEGG: hsa:271

STRING: 9606.ENSP00000256578

UniGene: Hs.82927