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Literature summary extracted from

  • Du, X.; Schwander, M.; Moresco, E.M.; Viviani, P.; Haller, C.; Hildebrand, M.S.; Pak, K.; Tarantino, L.; Roberts, A.; Richardson, H.; Koob, G.; Najmabadi, H.; Ryan, A.F.; Smith, R.J.; Mueller, U.; Beutler, B.
    A catechol-O-methyltransferase that is essential for auditory function in mice and humans (2008), Proc. Natl. Acad. Sci. USA, 105, 14609-14614.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

EC Number Cloned (Comment) Organism
2.1.1.6 expressed in HEK-293 cells Mus musculus

Protein Variants

EC Number Protein Variants Comment Organism
2.1.1.6 L16P missense mutation Homo sapiens
2.1.1.6 additional information the add mutation substantially diminishes COMT1 methyltransferase activity toward norepinephrine Mus musculus
2.1.1.6 Y71X the mutation is predicted to truncate the protein before the catalytic domain likely affecting methyltransferase activity Homo sapiens

Organism

EC Number Organism UniProt Comment Textmining
2.1.1.6 Homo sapiens
-
-
-
2.1.1.6 Mus musculus
-
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
2.1.1.6 cochlea isoform COMT2 Mus musculus
-
2.1.1.6 hair cell COMT2 is highly expressed in sensory hair cells of the inner ear Mus musculus
-
2.1.1.6 hair cell COMT2 is highly expressed in sensory hair cells of the inner ear Homo sapiens
-
2.1.1.6 inner ear vestibulum isoform COMT2 Mus musculus
-
2.1.1.6 additional information isoform COMT2 is not expressed in the central nervous system Mus musculus
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.1.1.6 norepinephrine + S-adenosyl-L-methionine
-
 Mus musculus S-adenosyl-L-homocysteine + normetanephrine
-
 ?
2.1.1.6 norepinephrine + S-adenosyl-L-methionine
-
 Homo sapiens S-adenosyl-L-homocysteine + normetanephrine
-
 ?

Synonyms

EC Number Synonyms Comment Organism
2.1.1.6 COMT1 isoform Mus musculus
2.1.1.6 COMT1 isoform Homo sapiens
2.1.1.6 COMT2 isoform Mus musculus
2.1.1.6 COMT2 isoform Homo sapiens

General Information

EC Number General Information Comment Organism
2.1.1.6 physiological function catechol-O-methyltransferase COMT2 is essential for auditory function Mus musculus
2.1.1.6 physiological function catechol-O-methyltransferase COMT2 is essential for auditory function Homo sapiens