What does ALAS2 do?

Normal Function. 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.

What is ALA Gene?

Aminolevulinic acid synthase (ALA synthase, ALAS, or delta-aminolevulinic acid synthase) is an enzyme (EC that catalyzes the synthesis of δ-aminolevulinic acid (ALA) the first common precursor in the biosynthesis of all tetrapyrroles such as hemes, cobalamins and chlorophylls.

What does ALA synthase do?

ALA synthase removes the carboxil group from glycine and the CoA from the succinyl-CoA by means of its prosthetic group pyridoxal phosphate (a vitamin B6 derivative), forming δ-aminolevulinic acid (dALA), so called because the amino group is on the fourth carbon atom in the molecule.

Where is ALAS1 found?

Aliases ALAS1, ALAS, ALAS3, ALASH, MIG4, ALAS-H, 5′-aminolevulinate synthase 1
External IDs OMIM: 125290 MGI: 87989 HomoloGene: 55478 GeneCards: ALAS1
Gene location (Human) Chr. Chromosome 3 (human) Band 3p21.2 Start 52,198,086 bp End 52,214,327 bp

What test confirms sideroblastic anemia?

Sideroblastic anemia, like other types of anemia, is often first detected in a routine blood test. A complete blood count (CBC) may be done as part of your annual physical or if a blood disorder is suspected. It tests for levels of red blood cells, hemoglobin, and other markers of blood health.

What is the most common cause of sideroblastic anemia?

The most common form of congenital sideroblastic anemia (CSA) is caused by mutation of erythroid-specific 5-aminolevulinate synthase (ALAS2), the first enzyme of heme synthesis in erythroid cells.

Is heme the same as hemoglobin?

Heme is an iron-containing molecule that is important for many biological processes. Heme combines with globin proteins to form hemoglobin, which carries oxygen in red blood cells from the lungs to the rest of the body.

Is heme an iron?

Iron from food comes in two forms: heme and non-heme. Heme is found only in animal flesh like meat, poultry, and seafood. Non-heme iron is found in plant foods like whole grains, nuts, seeds, legumes, and leafy greens.