Specifications
Species Reactivity
Human; Mouse
Immunogen
ALAS2 (NP_000023, 1 a.a. ~ 100 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
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 ()
Have you cited DCABH-10481 in a publication?
Let us know and earn a reward for your research.
COA
Loading ......
