EC Number   |
General Information |
Reference |
|---|
    2.5.1.61 | evolution |
all enzymes in the family adopt a three-domain fold in which domains 1 and 2 resemble the fold of type II periplasmic binding proteins and the third domain, to which the cofactor is covalently attached, adopts a distinct alpha/beta topology |
-, 737348 |
| 2.5.1.61 | malfunction |
acute intermittent porphyria is characterized by a partial deficiency in the enzyme, the third enzyme in heme biosynthesis |
707112 |
| 2.5.1.61 | malfunction |
autosomal dominantly inherited disease acute intermittent porphyria, AIP, is caused by mutations in hydroxymethylbilane synthase, phenotypes, overview |
737881 |
| 2.5.1.61 | malfunction |
camouflage1 (cf1) mutant develops nonclonal, yellow-green sectors in leaves based on bundle sheath cell-specific death, yellow mutant regions show reduced levels of chlorophyll a + b, and total carotenoids, reduced photosynthesis and stomatal conductance compared to wild type and green regions of the mutant, constant light suppresses the cf1 sector formation, sectors only form during a limited time of leaf development, underlying is a decreased enzyme activity and increased levels of the substrate in green and yellow regions, yellow regions show an additional reduction in catalase activity |
710016 |
| 2.5.1.61 | malfunction |
enzyme deficiency results in overproduction of porphyrin precursors in acute intermittent porphyria |
709334 |
| 2.5.1.61 | malfunction |
half-maximal activity of the enzyme causes acute intermittent porphyria due to an error of heme biosynthesis |
703965 |
| 2.5.1.61 | malfunction |
mutation causes acute intermittent porphyria |
707428 |
| 2.5.1.61 | malfunction |
mutations cause acute intermittent porphyria |
708471 |
| 2.5.1.61 | metabolism |
hydroxymethylbilane synthase is the third enzyme in the heme biosynthesis pathway |
737881 |
| 2.5.1.61 | metabolism |
porphobilinogen deaminase, an enzyme in the heme biosynthetic pathway, catalyzes the formation of a linear tetrapyrrole product, 1-hydroxymethylbilane, from four units of porphobilinogen |
739392 |
