5-aminolevulinate synthase, erythroid-specific, mitochondrial
Definition:
References:
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[1]. Jordi To-Figueras, et al. ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria. Blood. 2011 Aug 11;118(6):1443-51. [Content Brief]
[2]. T C Cox, et al. Human erythroid 5-aminolevulinate synthase: promoter analysis and identification of an iron-responsive element in the mRNA. EMBO J. 1991 Jul;10(7):1891-902. [Content Brief]
[3]. Sarah Ducamp, et al. Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations. Hum Mutat. 2011 Jun;32(6):590-7. [Content Brief]
[4]. Timothy C Cox, et al. The major splice variant of human 5-aminolevulinate synthase-2 contributes significantly to erythroid heme biosynthesis. Int J Biochem Cell Biol. 2004 Feb;36(2):281-95. [Content Brief]
[5]. Jana Kucerova, et al. New mutation in erythroid-specific delta-aminolevulinate synthase as the cause of X-linked sideroblastic anemia responsive to pyridoxine. Acta Haematol. 2011;125(4):193-7. [Content Brief]
[6]. Henry J Bailey, et al. Human aminolevulinate synthase structure reveals a eukaryotic-specific autoinhibitory loop regulating substrate binding and product release. Nat Commun. 2020 Jun 4;11(1):2813. [Content Brief]
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