ALAS2( Human )
5'-aminolevulinate synthase 2
Alias
ALAS-E|ALASE|ANH1|ASB|SIDBA1|XLDPP|XLEPP|XLSA
The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008].