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Literature summary for 2.4.99.18 extracted from

  • Molinari, F.; Foulquier, F.; Tarpey, P.S.; Morelle, W.; Boissel, S.; Teague, J.; Edkins, S.; Futreal, P.A.; Stratton, M.R.; Turner, G.; Matthijs, G.; Gecz, J.; Munnich, A.; Colleaux, L.
    Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation (2008), Am. J. Hum. Genet., 82, 1150-1157.
    View publication on PubMedView publication on EuropePMC
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Application

Application Comment Organism
medicine mutation in OTase subunits are responsible for isolated cognitive deficit Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens fine regulation of OTase activity is essential for normal cognitive-function development ?
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
fibroblast
-
 Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information fine regulation of OTase activity is essential for normal cognitive-function development Homo sapiens ?
-
 ?

Synonyms

Synonyms Comment Organism
oligosaccharyltransferase
-
 Homo sapiens
OTase
-
 Homo sapiens