Article
C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload.
American journal of human genetics - 1 Sept 2008
Whatley Sharon D, Ducamp Sarah, Gouya Laurent, Grandchamp Bernard, Beaumont Carole, Badminton Michael N, Elder George H, Holme S Alexander, Anstey Alexander V, Parker Michelle, Corrigall Anne V, Meissner Peter N, Hift Richard J, Marsden Joanne T, Ma Yun, Mieli-Vergani Giorgina, Deybach Jean-Charles, Puy Hervé
Abstract excerpt
All reported mutations in ALAS2, which encodes the rate-regulating enzyme of erythroid heme biosynthesis, cause X-linked sideroblastic anemia. We describe eight families with ALAS2 deletions, either c.1706-1709 delAGTG (p.E569GfsX24) or c.1699-1700 delAT (p.M567EfsX2), resulting in frameshifts that lead to replacement or deletion of the 19-20 C-terminal residues of the enzyme. Prokaryotic expression studies show...
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