Target Enabling Packages (TEPs)
Published June 13, 2019 | Version 2
Dataset Open

Human 5'-Aminolevulinate Synthase, Erythroid-Specific (ALAS2); A Target Enabling Package

Authors/Creators

  • 1. Structural Genomics Consortium, Nuffield Department of Medicine, University of Oxford
  • 2. Department of Biochemistry and Molecular Biology, University of Georgia, Athens GA

Description

Erythorid specific 5’-Aminolevulinate synthase (ALAS2) catalyses the first and rate-determining step in haem biosynthesis during erythroid development. This TEP provides the structural biology tools to facilitate two aspects of ALAS2 research: (i) understanding how mutations in the ALAS2 C-terminus, a region unique to higher eukaryotes, lead to over-activity of the enzyme associated with a gain-of-function disorder; and (ii) providing chemical starting points to explore metabolic intervention of ALAS2, as substrate reduction therapy for the group of porphyria disorders that are associated with haem biosynthetic steps downstream of ALAS2.

Notes

This document represents version 2 of the TEP datasheet and includes all updates on the project as of October 2020. For more information about TEPs and the TEP Programme, please visit https://thesgc.org/tep

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ALAS2_TEP_datasheet_v2.pdf

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Additional details

Related works

Is part of
https://www.thesgc.org/tep (URL)

Funding

Wellcome Trust
A UK Hub to Catalyse Open Target Discovery. 106169