Delta-aminolevulinate synthase 2 also known as ALAS2 is a protein that in humans is encoded by the ALAS2 gene. [5][6][7] ALAS2 is an aminolevulinic acid synthase. The product of this gene …

Mar 30, 2025 · ALAS2 (5'-Aminolevulinate Synthase 2) is a Protein Coding gene. Diseases associated with ALAS2 include Anemia, Sideroblastic, 1 and Protoporphyria, Erythropoietic, X …

The ALAS2 gene provides instructions for making an enzyme called 5'-aminolevulinate synthase 2 or erythroid ALA-synthase. This version of the enzyme is found only in developing red blood …

ALAS2 uses pyridoxal-5′ phosphate to catalyze the condensation of glycine and succinyl-CoA to produce 5-aminolevulinic acid (ALA), the first heme precursor. X-Linked Sideroblastic Anemia …

Feb 8, 2025 · A novel ALAS2 missense mutation in exon 9 affects the enzymatic activity of ALAS2 by affecting its interaction with the cofactor pyridoxal 5'-phosphate in X-linked sideroblastic …

Jun 4, 2020 · Inherited frameshift indel mutations of human erythroid-specific isozyme ALAS2, within a C-terminal (Ct) extension of its catalytic core that is only present in higher eukaryotes, …

May 30, 2022 · X-linked sideroblastic anemia (XLSA), the most common form of congenital sideroblastic anemia, is caused by a germline mutation in the erythroid-specific 5 …

ALAS, is encoded by two genes: the erythroid-specific (ALAS2), and the ubiquitously expressed (ALAS1). In the liver, ALAS1 controls the rate-limiting step in the production of heme and …

Delta-aminolevulinate synthase (ALAS; EC 2.3.1.27) catalyzes the first committed step of heme biosynthesis, which is the synthesis of 5-aminolevulinic acid, the first common precursor of all …

Mar 5, 2024 · Clinical resource with information about ALAS2, X-linked erythropoietic protoporphyria, X-linked sideroblastic anemia 1, and available tests. There are links to practice …