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Literature summary for 5.3.99.5 extracted from

  • Genevieve, D.; Proulle, V.; Isidor, B.; Bellais, S.; Serre, V.; Djouadi, F.; Picard, C.; Vignon-Savoye, C.; Bader-Meunier, B.; Blanche, S.; de Vernejoul, M.C.; Legeai-Mallet, L.; Fischer, A.M.; Le Merrer, M.; Dreyfus, M.; Gaussem, P.; Munnich, A.; Cormier-Daire, V.
    Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome) (2008), Nat. Genet., 40, 284-286.
    View publication on PubMed
Search for more literature for 5.3.99.5

Protein Variants

Protein Variants Comment Organism
L488P in alpha-helix, indroducing a coil in the secondary structure, crucial for enzyme activity Homo sapiens
L83P in beta-sheet, indroducing a coil in the secondary structure, crucial for enzyme activity Homo sapiens
Q482W changing an aliphatic amino acid with low steric hindrance into an aromatic amino acid with high steric hindrance in the vicinitx of the catalytic site, modifying the interaction of the enzyme-substarte complex, crucial for enzyme activity Homo sapiens
R431E decreased enzyme activity, 1% residual activity Homo sapiens
R431K decreased enzyme activity, 1% residual activity Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
endoplasmic reticulum lumen
-
 Homo sapiens 5788
-
membrane intrinsic protein Homo sapiens 16020
-

Molecular Weight [Da]

Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
60000
-
 transmembrane TXAS, considered to be an atypical memeber of the cytochrome P450 superfamily as lacks its minooxygenase activity Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens TXAS is one of the terminal enzymes of the arachidonic acid cascade and converts prostaglandins H2 into thromobane A2 in the endoplasmic reticulum ?
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
 unrelated families of Tunasian and Pakistani origin with Ghosal hematodiaphyseal dysplasia syndrome (GHDD, i.e. Ghosal syndrome), a rare autosomal recessive disorder characterized by increased bone densitiy
-

Purification (Commentary)

Purification (Comment) Organism
intrinsic membrane protein, detergent treatment is necessary Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information TXAS is one of the terminal enzymes of the arachidonic acid cascade and converts prostaglandins H2 into thromobane A2 in the endoplasmic reticulum Homo sapiens ?
-
 ?

Synonyms

Synonyms Comment Organism
TBXAS1
-
 Homo sapiens
thromboxane synthase
-
 Homo sapiens
TXAS
-
 Homo sapiens