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Literature summary for 2.1.1.6 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
Search for more literature for 2.1.1.6

Cloned(Commentary)

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

Protein Variants

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

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-
Mus musculus
-
-
-

Source Tissue

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

Substrates and Products (Substrate)

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

Synonyms

Synonyms Comment Organism
COMT1 isoform Mus musculus
COMT1 isoform Homo sapiens
COMT2 isoform Mus musculus
COMT2 isoform Homo sapiens

General Information

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