ALAS2
5-aminolevulinate synthase, erythroid-specific, mitochondrial
Protein Summary
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. [provided by RefSeq, Jul 2008]
- ENST00000330807
- ENSP00000332369
- ENSG00000158578
- ENST00000335854
- ENSP00000337131
- ENST00000396198
- ENSP00000379501
- ENST00000650242
- ENSP00000497236
- ALASE
- ASB
- ASB
- ANH1
- XLSA
- ALASE
- XLDPP
- XLEPP
- ALAS-E
- SIDBA1
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
protein domain | 0.92 | ||
molecular function | 0.81 | ||
cell type or tissue | 0.75 | ||
cellular component | 0.71 | ||
disease | 0.7 | ||
Protein Classes
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 234.95 (req: < 5)
Gene RIFs: 46 (req: <= 3)
Antibodies: 285 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 234.95 (req: >= 5)
Gene RIFs: 46 (req: > 3)
Antibodies: 285 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 11
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0