Characterisation of a common hotspot variant in acute intermittent porphyria sheds light on the mechanism of hydroxymethylbilane synthase function
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DOI: 10.1002/2211-5463.13490
Abstract: Hydroxymethylbilane synthase (HMBS) is the third enzyme involved in haem biosynthesis, in which it catalyses the formation of tetrapyrrole 1‐hydroxymethylbilane (HMB). In this process, HMBS binds four consecutive substrate molecules, creating the enzyme‐intermediate complexes ES,… read more here.
Keywords: intermittent porphyria; hydroxymethylbilane synthase; acute intermittent; hydroxymethylbilane ... See more keywords