Gene
amacr
- ID
- ZDB-GENE-050522-484
- Name
- alpha-methylacyl-CoA racemase
- Symbol
- amacr Nomenclature History
- Previous Names
-
- c1qtnf3
- zgc:110704 (1)
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to have CoA-transferase activity. Human ortholog(s) of this gene implicated in alpha-methylacyl-CoA racemase deficiency; congenital bile acid synthesis defect 4; and urinary bladder cancer. Orthologous to human AMACR (alpha-methylacyl-CoA racemase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| alpha-methylacyl-CoA racemase deficiency | Alliance | Alpha-methylacyl-CoA racemase deficiency | 614307 |
| congenital bile acid synthesis defect 4 | Alliance | Bile acid synthesis defect, congenital, 4 | 214950 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | CoA-transferase family III | CoA-transferase family III domain 1 superfamily | CoA-transferase family III domain 3 superfamily | Coenzyme A-transferase family III |
|---|---|---|---|---|---|
|
UniProtKB:Q503C9
|
382 |
Interactions and Pathways
No data available
Plasmids
No data available