Full name: 5'-aminolevulinate synthase 2

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: ALAS-E; ALASE; ANH1; ASB; SIDBA1; XLDPP; XLEPP; XLSA

Summary: 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]

Expression: Restricted expression toward bone marrow (RPKM 181.6)

Gene size: 21923bp

Exon count: 12