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Literature summary for 2.1.1.6 extracted from

  • Chen, J.; Lipska, B.K.; Halim, N.; Ma, Q.D.; Matsumoto, M.; Melhem, S.; et al.
    Functional analysis of genetic variation in catechol-O-methyltransferase (COMT): effects on mRNA, protein, and enzyme activity in postmortem human brain (2004), Am. J. Hum. Genet., 75, 807-821.
    View publication on PubMedView publication on EuropePMC

Application

Application Comment Organism
medicine genetic variation in COMT gene (MIM 116790) is associated with altered prefrontal cortex function and higher risk for schizophrenia. A common single-nucleotide polymorphism within COMT, Val158Met, significantly affects protein abundance and enzyme activity but not mRNA expression levels. Val is a predominant factor that determines higher COMT activity in the prefrontal cortex, which presumably leads to lower synaptic dopamine levels and relatively deleterious prefrontal function Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens key enzyme in the elemination of dopamine in the prefrontal cortex of the human brain. Genetic variation in COMT gene (MIM 116790) is associated with altered prefrontal cortex function and higher risk for schizophrenia. A common single-nucleotide polymorphism within COMT, Val158Met, significantly affects protein abundance and enzyme activity but not mRNA expression levels. Val is a predominant factor that determines higher COMT activity in the prefrontal cortex, which presumably leads to lower synaptic dopamine levels and relatively deleterious prefrontal function ?
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Organism

Organism UniProt Comment Textmining
Homo sapiens
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a common single-nucleotide polymorphism within COMT, Val158Met, significantly affects protein abundance and enzyme activity but not mRNA expression levels. Val is a predominant factor that determines higher COMT activity in the prefrontal cortex, which presumably leads to lower synaptic dopamine levels and relatively deleterious prefrontal function
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Source Tissue

Source Tissue Comment Organism Textmining
brain postmortem dorsolateral prefrontal cortex tissue predominantly expresses the membrane-bound isoform. Females have lower COMT activity than males Homo sapiens
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lymphocyte no effect of sex on COMT activity Homo sapiens
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Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information key enzyme in the elemination of dopamine in the prefrontal cortex of the human brain. Genetic variation in COMT gene (MIM 116790) is associated with altered prefrontal cortex function and higher risk for schizophrenia. A common single-nucleotide polymorphism within COMT, Val158Met, significantly affects protein abundance and enzyme activity but not mRNA expression levels. Val is a predominant factor that determines higher COMT activity in the prefrontal cortex, which presumably leads to lower synaptic dopamine levels and relatively deleterious prefrontal function Homo sapiens ?
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Synonyms

Synonyms Comment Organism
COMT
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Homo sapiens