Reactome | ALDOB mutant proteins [cytosol]

Stable Identifier

R-HSA-5656450

Type

Set [DefinedSet]

Species

Homo sapiens

Compartment

cytosol

Locations in the PathwayBrowser

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Literature References

PubMed ID	Title	Journal	Year
10625657	Expression, purification, and characterization of natural mutants of human aldolase B. Role of quaternary structure in catalysis Sygusch, J, Cox, TM, Rellos, P	J. Biol. Chem.	2000
12464284	The temperature dependence of activity and structure for the most prevalent mutant aldolase B associated with hereditary fructose intolerance Procious, SL, Malay, AD, Tolan, DR	Arch. Biochem. Biophys.	2002

Participants

members

Disease

Name	Identifier	Synonyms
hereditary fructose intolerance syndrome	DOID:9869	Fructosemia, Fructose-1,6-bisphosphate aldolase B deficiency, Fructosaemia

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