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ALAS2

Anti-ALAS2 Products
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- Species Reactivity: Human
- Type: Mouse IgG2a
- Application: ELISA, WB
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- Derivation: Mouse
- Species Reactivity: Human, Mouse, Rat
- Type: Mouse IgG1
- Application: WB, IP, IF, IHC
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- Species Reactivity: Human, Mouse, Rat
- Type: Rabbit IgG
- Application: WB, IP
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- Derivation: Phage display library screening
- Species Reactivity: Mouse, Rat, Human
- Type: Rabbit IgG
- Application: WB, FC, IP
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For Research Use Only. Not For Clinical Use.
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.
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets
Predicted location
Intracellular
Single cell type specificity
Cell type enriched (Erythroid cells)
Immune cell specificity
Immune cell enriched (plasmacytoid DC)
Cell line specificity
Group enriched (HEL, K-562)
Interaction
Homodimer (PubMed:32499479). Interacts with SUCLA2 (PubMed:14643893, PubMed:32499479). [Isoform 4]: Interacts with SUCLA2.
Molecular function
Acyltransferase, Transferase
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