Specifications
Species Reactivity
Mouse; Rat; Human
Immunogen
Synthetic peptide (the amino acid sequence is considered to be commercially sensitive) within Human ALAS2 aa 550 to the C-terminus. The exact sequence is proprietary.Database link: P22557
Applications
Application Notes
WB: 1/1000 - 1/2000; Flow Cyt: 1/100; IP: 1/30 - 1/50;
Target
Alternative Names
ALAS2; aminolevulinate, delta-, synthase 2; aminolevulinate, delta , synthase 2 (sideroblastic/hypochromic anemia) , ASB; 5-aminolevulinate synthase, erythroid-specific, mitochondrial; sideroblastic/hypochromic anemia; delta-ALA synthase 2; delta-ALA synt
Product Background
Antigen Description
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.
Pathway
Glycine, serine and threonine metabolism, organism-specific biosystem; Glycine, serine and threonine metabolism, conserved biosystem; Heme Biosynthesis, organism-specific biosystem; Heme biosynthesis, organism-specific biosystem; Metabolic pathways, organism-specific biosystem; Metabolism, organism-specific biosystem; Metabolism of porphyrins, organism-specific biosystem;
Citations
Publication ()
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COA
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