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ALAS2

Official Full Name
5'-aminolevulinate synthase 2
Organism
Homo sapiens
GeneID
212
Background
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]
Synonyms
ASB; ANH1; XLSA; ALASE; XLDPP; XLEPP; ALAS-E; SIDBA1;

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