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Please note: We are reviewing Western blot images included in the antibody testing data in our catalog, including those provided by third parties. Unless expressly labeled or annotated as “raw-unedited”, Western blot images included in the antibody testing data in our catalog may have been edited, optimized or otherwise adjusted for presentation.
ALAS2 specifies an erythroid-specific mitochondrially located enzyme. It catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia.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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: 5-aminolevulinate synthase, erythroid-specific, mitochondrial; 5-aminolevulinic acid synthase 2; ALAS-E; aminolevulinate, delta-, synthase 2; Delta-ALA synthase 2; delta-ALA synthetase; Delta-aminolevulinate synthase 2; erythroid-specific delta-aminolevulinate synthase; PRO2399; RP5-884M20.1; unnamed protein product
Gene Aliases: ALAS-E; ALAS2; ALASE; ANH1; ASB; SIDBA1; XLDPP; XLEPP; XLSA
Entrez Gene ID: (Human) 212
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