crystal structure of uroporphyrinogen iii synthase from an extremely thermophilic bacterium thermus thermophilus hb8 (wild type, native, form-2 crystal)
Uroporphyrinogen III synthase (
EC4.2.1.75) is an
enzyme involved in the
metabolism of the cyclic
tetrapyrrole compound
porphyrin. It is involved in the conversion of
hydroxymethyl bilane into
uroporphyrinogen III. This enzyme
catalyses the inversion of the final
pyrrole unit (ring D) of the linear tetrapyrrole molecule, linking it to the first pyrrole unit (ring A), thereby generating a large macrocyclic structure, uroporphyrinogen III.[1] The enzyme
folds into two alpha/beta
domains connected by a beta-ladder, the
active site being located between the two
domains.[2]
Pathology
A deficiency is associated with
Gunther's disease, also known as congenital erythropoietic porphyria (CEP). This is an
autosomal recessive inborn error of metabolism that results from the markedly deficient activity of uroporphyrinogen III synthase.[3]
^To-Figueras J, Badenas C, Mascaro JM, Madrigal I, Merino A, Bastida P, Lecha M, Herrero C (2007). "Study of the genotype-phenotype relationship in four cases of congenital erythropoietic porphyria". Blood Cells Mol. Dis. 38 (3): 242–6.
doi:
10.1016/j.bcmd.2006.12.001.
PMID17270473.
crystal structure of uroporphyrinogen iii synthase from an extremely thermophilic bacterium thermus thermophilus hb8 (wild type, native, form-2 crystal)
Uroporphyrinogen III synthase (
EC4.2.1.75) is an
enzyme involved in the
metabolism of the cyclic
tetrapyrrole compound
porphyrin. It is involved in the conversion of
hydroxymethyl bilane into
uroporphyrinogen III. This enzyme
catalyses the inversion of the final
pyrrole unit (ring D) of the linear tetrapyrrole molecule, linking it to the first pyrrole unit (ring A), thereby generating a large macrocyclic structure, uroporphyrinogen III.[1] The enzyme
folds into two alpha/beta
domains connected by a beta-ladder, the
active site being located between the two
domains.[2]
Pathology
A deficiency is associated with
Gunther's disease, also known as congenital erythropoietic porphyria (CEP). This is an
autosomal recessive inborn error of metabolism that results from the markedly deficient activity of uroporphyrinogen III synthase.[3]
^To-Figueras J, Badenas C, Mascaro JM, Madrigal I, Merino A, Bastida P, Lecha M, Herrero C (2007). "Study of the genotype-phenotype relationship in four cases of congenital erythropoietic porphyria". Blood Cells Mol. Dis. 38 (3): 242–6.
doi:
10.1016/j.bcmd.2006.12.001.
PMID17270473.