Tissue expression
Cell line expression
Protein structure
ALAS2
5'-aminolevulinate synthase 2ASB
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]
Top validated antibodies |
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| LSBio | Polyclonal |
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| NSJ Bioreagents | Polyclonal |
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| antibodies-online | 2 references | Monoclonal |
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| Abnova Corporation | 2 references | Monoclonal |
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| Novus Biologicals | 2 references | Monoclonal |
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