ALAS2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human ALAS2 wild-type allele is located in the vicinity of Xp11.21 and is approximately 22 kb in length. This allele, which encodes 5-aminolevulinate synthase, erythroid-specific, mitochondrial protein, is involved in heme formation during erythropoiesis. Mutation of the gene is associated with X-linked sideroblastic anemia 1 and X-linked dominant erythropoietic protoporphyria.

**Synonyms:** - 5'-Aminolevulinate Synthase 2 wt Allele - 5-Aminolevulinate Synthase, Erythroid-Specific Gene - ALAS, Erythroid Gene - ALAS-E - ALASE - ANH1 - ASB - Aminolevulinate, Delta-, Synthase 2 (Sideroblastic/Hypochromic Anemia) Gene - Aminolevulinate, Delta-, Synthase 2 Gene - Delta-ALA Synthetase Gene - Erythroid-Specific Delta-Aminolevulinate Synthase Gene - SIDBA1 - Sideroblastic/Hypochromic Anemia Gene - XLDPP - XLEPP - XLSA