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TBXAS1 mutants [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-5603369
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Metabolic disorders of biological oxidation enzymes (Homo sapiens)
Defective TBXAS1 causes GHDD (Homo sapiens)
Defective TBXAS1 does not isomerise PGH2 to TXA2 (Homo sapiens)
TBXAS1 mutants [endoplasmic reticulum membrane] (Homo sapiens)
Participants
members
TBXAS1 G482W [endoplasmic reticulum membrane]
(Homo sapiens)
TBXAS1 L488P [endoplasmic reticulum membrane]
(Homo sapiens)
TBXAS1 L83P [endoplasmic reticulum membrane]
(Homo sapiens)
TBXAS1 R413E [endoplasmic reticulum membrane]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
bone disease
DOID:0080001
anemia
DOID:2355
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