ALAS2

Delta-aminolevulinate synthase 2 also known as ALAS2 is a is_associated_with::protein that in humans is encoded by the ALAS2 gene. ALAS2 is an is_associated_with::aminolevulinic acid synthase.

The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the is_associated_with::heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive is_associated_with::sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified.

Its gene contains an IRE in its 5'-UTR region on which an IRP binds if the iron level is too low, thus inhibiting its translation.