Recombinant Human AMP deaminase 1 (AMPD1)

1. T allele of AMPD1 gene C34T polymorphism may be correlated with LVEF, LVEDD and SBP, which plays a protective role in the cardiac functions and blood pressure in cardiovascular disease patients. PMID: 28673246
2. The metabolic-chronotropic response is decreased in skeletal muscle MAD deficiency, suggesting a biological mechanism by which AMPD1 gene exerts cardiac effect PMID: 29095874
3. Variations in AMPD1, CPT2, and PGYM genes are not associated with the onset, susceptibility, or severity of chronic fatigue syndrome. PMID: 27525900
4. Common polymorphism of the AMPD1 gene (C34T) is strongly associated with essential hypertension. PMID: 27323204
5. AMPD1 could have a profound influence on cholinergic neurotransmission and sleep; further studies are mandatory PMID: 26439223
6. AMPD1 34C>T variant is associated with higher infection susceptibility to community acquired pneumonia but not to ventilator associated pneumonia in sepsis pateints PMID: 26529652
7. Mutational variants in AMPD1 contribute to autism risk in Han Chinese population, via mitochondria dysfunction and cell necrosis. PMID: 25155876
8. The best response to creatine in terms of physical performance was presented by AMPD1 CC genotype. PMID: 25665401
9. The present study demonstrated a positive effect of C34T AMPD1 gene polymorphism in aortic stiffness and in inflammatory status in a high risk population of CAD subjects. PMID: 24508110
10. Our other studies on the metabolic impact of AMPD1 C34T mutation revealed decrease in AMPD activity. PMID: 24431031
11. Alpinists show significantly higher frequencies of T allele compared to controls. PMID: 24058088
12. AMPD1 gene polymorphism C34T can be considered as a marker of liability to the high-speed and strength muscular activity. PMID: 23486588
13. In a study of a Spanish and 2 North African cohorts, frequency of the AMPD1 C34T mutation was lower in Berbers compared with the Alpujarra cohort. The GDF8 K153R substitution showed little variability among the three cohorts. PMID: 22324844
14. There was a lower frequency of the AMPD1 exon 2 T34 allele in elite Polish power-oriented athletes. The data suggested that the C allele may help athletes to attain elite status in power-oriented sports. PMID: 22017426
15. The researchers found evidence that the T allele polymorphism of the AMPD1 gene is associated with negative factor in athletic performance PMID: 22105616
16. AMPD1 gene mutations are associated with obesity and diabetes in Polish patients with cardiovascular diseases. PMID: 21108053
17. some physico-chemical properties of AMP-deaminase isolated from cardiac muscle of a 10-year-old boy heterozygote for this mutation PMID: 20544536
18. A G468T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population. PMID: 12117480
19. Significantly higher frequency of mutation among donors with healthy hearts used for transplantation. Lower frequency in dysfunctional donor hearts. Frequency of C34T mutation in chronic heart failure was not different. (Review) PMID: 15239633
20. The AMPD1 C34T polymorphism influences transplant-free cardiovascular survival in the setting of ischemic left ventricular dysfunction. PMID: 15309698
21. Primary myoadenylate-deaminase deficiency was diagnosed based upon elevated creatine-kinase, absent staining for MAD on muscle biopsy, markedly reduced MAD activity in the muscle homogenate, and C34T mutation within exon 2 of AMPD1 gene. PMID: 15368811
22. In conclusion, although the frequency distribution of the mutant T allele of the AMPD1 genotype is lower in Caucasian elite endurance athletes than in controls, the C34T mutation does not significantly impair endurance performance. PMID: 15677729
23. In this study, the metabolic clearance rate of insulin was associated with AMPD1 SNPs and haplotypes. PMID: 15793265
24. a C34T mutation in AMP deaminase is found more frequently in healthy donor hearts than in healthy controls or donors with failing hearts PMID: 16021915
25. the AMPD1 mutation decreases the activity of AMP-deaminase in the heart without changing the activity of any other enzymes of adenine nucleotide metabolism PMID: 16021918
26. The interpretation of the significance of these observations suggests a physiological mutual dependence between skeletal muscle HPRG and AMPD polypeptides with regard to their stability. PMID: 16570231
27. Genes are associated with good clinical response of rheumatoid arthritis to methotrexate treatment. PMID: 16947783
28. We did not demonstrate any effect of the C34T polymorphism of the AMPD1 gene on major congestive heart failure parameters and on survival. PMID: 16996850
29. The 34C > T variant of AMPD1 augments vasodilation and reduces tissue injury in response to forearm ischaemia. These mechanisms could contribute to the survival benefit of cardiovascular patients with this variant allele. PMID: 17376785
30. Reveals a functional role for skeletal muscle AMPD1 enzyme in sprint exercise. PMID: 17463303
31. C34T and G468T variations in the adenosine monophosphate deaminase-1 (AMPD1) gene were associated with intima-media thickness of the carotid and brachial artery, endothelial function of the brachial artery in patients with coronary heart disease. PMID: 17565237
32. Results suggest a better circulatory adaptation to exercise in individuals with diminished AMPD1 activity, probably due to an AMPD1 genotype-dependent increase in adenosine formation. PMID: 18224333
33. may control the systemic metabolic status by changing AMPK activity through the AMP level. PMID: 18409530
34. This is a first report evidencing the pattern of AMPD genes expression in neoplastic human liver. PMID: 18493842
35. C34T AMPD1 polymorphism may be associated with reduced frequency of obesity in coronary artery disease(CAD) patients and of hyperglycaemia and diabetes in both CAD and heart failure patients. PMID: 18855224
36. We found statistical significance for ACE ID and II genotypes in soccer players than in runners; Statistical significance was also reached for AMPD1 (with higher frequency of CT genotype in soccer players than in runners [chi(2)((2))=7.538, P=0.006]) PMID: 19277943
37. Possession of AMPD1 T allele is associated with decreased inotropic requirements before heart donation. Incidence of graft dysfunction was significantly higher in recipients who received AMPD1 T-allele-possessing organs resulting in worse 1-year survival. PMID: 19427446
38. Observational study of gene-disease association, pharmacogenomic / toxicogenomic, and genetic testing. (HuGE Navigator) PMID: 17530705

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HGNC: 468

OMIM: 102770

KEGG: hsa:270

STRING: 9606.ENSP00000430075

UniGene: Hs.89570