2024年12月24日 · ALAS2 (5'-Aminolevulinate Synthase 2) is a Protein Coding gene. Diseases associated with ALAS2 include Anemia, Sideroblastic, 1 and Protoporphyria, Erythropoietic, X-Linked . Among its related pathways are Heme biosynthesis and Metabolism .

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 specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway.

2025年2月8日 · A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria. Novel mutations in the ALAS2 gene from patients with X-linked sideroblastic anemia. [Knockdown of ALAS2 Affects Erythroid Differentiation by Down-regulating Mitophagy Receptor BNIP3L].

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 cells called erythroblasts. ALA-synthase plays an important role in the production of heme.

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 (XLSA) is caused by over 80 mutations in ALAS2 (Cotter et al. 1992; Stenson et al. 2017), with nearly all located in exons 5 through 11.

2020年6月4日 · 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, lead to...

Restricted expression toward bone marrow (RPKM 181.6). 该基因的产物指定了一种红细胞特异性线粒体定位酶。 编码的蛋白质催化血红素生物合成途径的第一步。 该基因的缺陷会导致 X 连锁的吡哆醇反应性铁粒幼细胞性贫血。 已经鉴定出编码不同亚型的选择性剪接转录物变体。 [RefSeq 提供，2008 年 7 月] The product of this gene specifies an erythroid-specific mitochondrially located Enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway.

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 hemoproteins that are rapidly turned over in response to metabolic needs.

GATA转录因子家族是红细胞生成过程中最重要的转录因子家族之一，其对红细胞生成的转录调控主要通过GATA1和GATA2发挥作用。 GATA1和GATA2对红细胞生成的多个阶段均有影响，可调控红细胞谱系分化及血红蛋白 (hemoglobin，Hb)的合成等方面。 GATA转录因子对红细胞生成调控最主要是通过调控红细胞谱系分化过程。 生理状态下，GATA2高表达于造血干/祖细胞 (hematopoietic stem/progenitor cell，HS/PC)，而GATA1则低表达。 HS/PC向红系组细胞分化 …

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 tetrapyrroles, from glycine and succinyl-coenzyme A (sCoA) in a pyridoxal 5-phosphate (PLP)-dependent manner (Astner et al., 2005).