AMP deaminase

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AMP deaminase
AMP deaminase
Ribbon model of the AMPD monomer from Arabidopsis thaliana , according to PDB  2A3L
Mass / length primary structure 747/879/767 amino acids
Secondary to quaternary structure Homotetramer
Isoforms 0 (AMPD1), 4 (AMPD2), 3 (AMPD3)
Identifier
Gene name (s) AMPD1 , AMPD2 , AMPD3
External IDs
Enzyme classification
EC, category 3.5.4.6 ,  hydrolase
Response type Deamination
Substrate AMP + H 2 O
Products IMP + NH 3
Occurrence
Parent taxon Eukaryotes
Orthologue
human House mouse
Entrez 270 229665
Ensemble ENSG00000116748 ENSMUSG00000070385
UniProt P23109 Q3V1D3
Refseq (mRNA) NM_000036 NM_001033303
Refseq (protein) NP_000027 NP_001028475
Gene locus Chr 1: 114.67 - 114.7 Mb Chr 3: 103.07 - 103.1 Mb
PubMed search 270 229665

AMP deaminases are enzymes in eukaryotes , the deamination of adenosine monophosphate (AMP) to inosine monophosphate (IMP) catalyze . This reaction is part of the metabolic pathway for the recovery of the purine nucleotides ( salvage pathway ). In humans, three isoenzymes are known that are expressed by different genes in different tissue types ( AMPD1 (M-form, also: myoadenylate desaminase ) in skeletal muscles , AMPD3 (E-form) in erythrocytes , AMPD2 (L-form) in the rest) and themselves have a total of seven isoforms . Mutations in the AMPD1 and AMPD3 genes can cause enzyme deficiencies in the corresponding tissue, with the clinical picture of MADD .

The relatively common mutation AMPD1 c.34C> T, p.Q12 * appears to reduce the risk of heart disease and obesity. At least one study with 900 patients could not reproduce these effects.

Catalyzed reaction

AMP+ H 2 O ⇒ IMP+ NH 3

AMP is converted to IMP; Water is consumed, ammonia is produced.

Disease value

Disorders of deaminase lead to adenosine monophosphate deaminase deficiency .

Individual evidence

  1. ↑ InterPro entry
  2. ↑ UniProt P23109
  3. ↑ Taegtmeyer AB, Breen JB, Rogers P, et al. : Effect of adenosine monophosphate deaminase-1 C34T allele on the requirement for donor inotropic support and on the incidence of early graft dysfunction after cardiac transplantation . In: Am. J. Cardiol. . 103, No. 10, May 2009, pp. 1457-62. doi : 10.1016 / j.amjcard.2009.01.360 . PMID 19427446 .
  4. ↑ Safranow K, Czyzycka E, Binczak-Kuleta A, et al. : Association of C34T AMPD1 gene polymorphism with features of metabolic syndrome in patients with coronary artery disease or heart failure . In: Scand. J. Clin. Lab. Invest. . 69, No. 1, 2009, pp. 102-12. doi : 10.1080 / 00365510802430964 . PMID 18855224 .
  5. ^ Norman B, Nygren AT, Nowak J, Sabina RL: The effect of AMPD1 genotype on blood flow response to sprint exercise . In: Eur. J. Appl. Physiol. . 103, No. 2, May 2008, pp. 173-80. doi : 10.1007 / s00421-008-0683-0 . PMID 18224333 .
  6. ↑ Collins RP, Palmer BR, Pilbrow AP, et al. : Evaluation of AMPD1 C34T genotype as a predictor of mortality in heart failure and post-myocardial infarction patients . In: Am. J. Heart . 152, No. 2, August 2006, pp. 312-20. doi : 10.1016 / y.ahj.2005.12.015 . PMID 16875916 .

Web links

Wikibooks: Biochemistry and Pathobiochemistry: Purine Metabolism  - Learning and Teaching Materials