Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria

Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria

The autosomal dominantly inherited disease AIP (acute intermittent porphyria) is caused by mutations in HMBS [hydroxymethylbilane synthase; also known as PBG (porphobilinogen) deaminase], the third enzyme in the haem biosynthesis pathway. Enzyme-intermediates with increasing number of PBG molecules...

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Bibliographic Details
Main Authors: Aurora Martinez, Karen Toska, Helene J. Bustad, Marta Vorland, Eva Rønneseth, Sverre Sandberg
Format: Article
Language:English
Published: Portland Press, Biochemical Society 2013-08-01
Series:Bioscience Reports
Subjects:
acute intermittent porphyria (AIP)
genotype–phenotype relationships
hydroxymethylbilane synthase
ligand–protein interaction
porphobilinogen (PBG) deaminase
thermal stability
Online Access:http://www.bioscirep.org/bsr/033/e056/bsr033e056.htm

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http://www.bioscirep.org/bsr/033/e056/bsr033e056.htm

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