WB, IHC, IHC-PHost:
Species: Hu, Mu
Host: Rabbit Polyclonal
Applications: WB, ELISA, PA
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.
|Product By Gene ID
- EC 22.214.171.124
- delta-ALA synthetase
- 5-aminolevulinic acid synthase 2,5-aminolevulinate synthase, erythroid-specific, mitochondrial
- aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)
- Delta-aminolevulinate synthase 2
- Delta-ALA synthase 2
- aminolevulinate, delta-, synthase 2
Bioinformatics Tool for ALAS2
Discover related pathways, diseases and genes to ALAS2. Need help? Read the Bioinformatics Tool Guide
for instructions on using this tool.