Species: Hu, Mu
Applications: WB, ELISA
Host: Mouse Monoclonal
Species: Hu, Mu, Rt
Applications: WB, IHC
Host: Rabbit Polyclonal
Species: Hu, Mu
Applications: WB
Host: Rabbit Polyclonal
Species: Hu
Applications: WB
Species: Hu
Applications: WB, ELISA, MA, AP
Species: Hu
Applications: AC
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.
Bioinformatics
| Entrez |
Human
|
| Uniprot |
Human
Human
Human
|
| Product By Gene ID |
212 |
| Alternate Names |
- 5-aminolevulinic acid synthase 2,5-aminolevulinate synthase, erythroid-specific, mitochondrial
- ALASE
- ALAS-E
- aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)
- aminolevulinate, delta-, synthase 2
- ANH1
- ASBXLDPP
- Delta-ALA synthase 2
- delta-ALA synthetase
- Delta-aminolevulinate synthase 2
- EC 2.3.1.37
- FLJ93603
- XLSA
|
