Gene:
aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)
Gene ID:
202844
Symbol:
ALAS2
Species:
1000
Description:
The nuclear ALAS2 gene specifies an erythroid-specific mitochondrially located enzyme. The ALAS2 gene product catalyzes the first step in the heme biosynthetic pathway. A second delta-aminolevulinate synthase gene (ALAS1)is located on chromosome 3 and is expressed in all tissues. A defective ALAS2 gene causes X-linked pyridoxine-responsive sideroblastic anemia (Hypochromic Anemia).