ALAS2 : 5'-aminolevulinate synthase 2
Description
The ALAS2 (5'-aminolevulinate synthase 2) is a protein-coding gene located on chromosome X.
The ALAS2 gene provides instructions for making an enzyme called 5'-aminolevulinate synthase 2 or erythroid ALA-synthase. This enzyme is found only in developing red blood cells called erythroblasts. ALA-synthase plays a key role in heme production. Heme is a component of iron-containing proteins called hemoproteins, including hemoglobin, which carries oxygen in the blood. Heme is vital for all organs, being most abundant in the blood, bone marrow, and liver. The production of heme involves a multi-step process requiring eight different enzymes. ALA-synthase initiates this process by producing delta-aminolevulinic acid (ALA), a key intermediate. Subsequent steps involve other enzymes that modify and assemble compounds leading to the formation of heme.
ALAS2 catalyzes the formation of aminolevulinic acid (ALA) from succinyl-CoA and glycine, using pyridoxal 5'-phosphate (PLP) as a cofactor. This reaction is the first step in heme biosynthesis, which is essential for red blood cell development (erythropoiesis).
ALAS2 is also known as ALAS-E, ALASE, ANH1, ASB, SIDBA1, XLDPP, XLEPP, XLSA.
Associated Diseases
- Protoporphyria, erythropoietic, X-linked
- Anemia, sideroblastic, X-linked
- X-linked sideroblastic anemia
- Porphyria
