AMP deaminase


AMP deaminase
Adenosine monophosphate deaminase 1
Identifiers
Symbols AMPD1; MAD; MADA
External IDs OMIM102770 MGI88015 HomoloGene20 GeneCards: AMPD1 Gene
EC number 3.5.4.6
RNA expression pattern
PBB GE AMPD1 206121 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 270 229665
Ensembl ENSG00000116748 ENSMUSG00000070385
UniProt P23109 Q3V1D3
RefSeq (mRNA) NM_000036.2 NM_001033303.2
RefSeq (protein) NP_000027.2 NP_001028475.2
Location (UCSC) Chr 1:
115.22 – 115.24 Mb
Chr 3:
102.88 – 102.9 Mb
PubMed search [1] [2]

AMP deaminase 1 is an enzyme that in humans is encoded by the AMPD1 gene.[1][2]

Adenosine monophosphate deaminase is an enzyme that converts adenosine monophosphate (AMP) to inosine monophosphate (IMP), freeing an ammonia molecule in the process.

Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythrocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human.[2]

Contents

Function

It is a part of the metabolic process that converts sugar, fat, and protein into cellular energy.

In order to use energy, a cell converts one of the above fuels into adenosine triphosphate (ATP) via the mitochondria. Cellular processes, especially muscles, then convert the ATP into adenosine diphosphate (ADP), freeing the energy to do work.

A new research report [3] shows that the widely-prescribed diabetes medication metformin http://en.wikipedia.org/wiki/Metformin works on AMP kinase by directly inhibiting AMP deaminase, thereby increasing cellular AMP.

Pathology

A deficiency is associated with myoadenylate deaminase deficiency.

References

  1. ^ Mahnke-Zizelman DK, Sabina RL (Nov 1992). "Cloning of human AMP deaminase isoform E cDNAs. Evidence for a third AMPD gene exhibiting alternatively spliced 5'-exons". J Biol Chem 267 (29): 20866–77. PMID 1400401. 
  2. ^ a b "Entrez Gene: AMPD1 adenosine monophosphate deaminase 1 (isoform M)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=270. 
  3. ^ http://www.ncbi.nlm.nih.gov/pubmed/21059655

Further reading

External links


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Look at other dictionaries:

  • AMP deaminase — An enzyme hydrolyzing adenylic acid to inosinic acid and NH3. A deficiency of A. in muscles can lead to excess fatigue following exercise. SYN: adenylic acid deaminase. * * * AMP de·am·i·nase (de amґĭ nās) [EC 3.5.4.6] an enzyme of the… …   Medical dictionary

  • AMP-Desaminase — Masse/Länge Primärstruktur 747 / 879 / 767 Aminosäuren …   Deutsch Wikipedia

  • Adenosine Monophosphate Deaminase Deficiency type 1 — Classification and external resources Adenosine monophosphate OMIM 102770 …   Wikipedia

  • DCMP deaminase — Identifiers Symbol DCTD Entrez 1635 HUGO …   Wikipedia

  • Myoadenylate deaminase deficiency — Infobox Disease Name = PAGENAME Caption = DiseasesDB = ICD10 = ICD9 = ICDO = OMIM = 102770 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Myoadenylate deaminase deficiency (MADD) is a recessive genetic metabolic disorder that affects… …   Wikipedia

  • Cytidine deaminase — PDB rendering based on 1mq0 …   Wikipedia

  • myoadenylate deaminase — Muscle AMP deaminase. See AMP deaminase. * * * myo·ad·en·yl·ate de·am·i·nase (mi″o adґən əl āt de amґĭ nās) the muscle isozyme of AMP deaminase; it is the isoenzyme A of AMP deaminase (q.v.) …   Medical dictionary

  • adenylate deaminase — aden·yl·ate de·am·i·nase (ə denґə lāt de amґĭ nās) AMP deaminase …   Medical dictionary

  • myoadenylate deaminase deficiency — myo·ad·en·yl·ate de·am·i·nase de·fi·cien·cy (mi″o adґən əl āt de amґĭ nās) a mild autosomal recessive disorder caused by mutation in the AMPD1 gene (locus: 1p21 p13), which encodes the muscle isoform of AMP… …   Medical dictionary

  • Adenosine-phosphate deaminase — In enzymology, an adenosine phosphate deaminase (EC number|3.5.4.17) is an enzyme that catalyzes the chemical reaction:5 AMP + H2O ightleftharpoons 5 IMP + NH3Thus, the two substrates of this enzyme are 5 AMP and H2O, whereas its two products are …   Wikipedia