Gene
tafazzin
- ID
- ZDB-GENE-030131-684
- Name
- tafazzin, phospholipid-lysophospholipid transacylase
- Symbol
- tafazzin Nomenclature History
- Previous Names
-
- taz
- wu:fb39f12
- zgc:91803
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to have O-acyltransferase activity. Involved in heart looping and positive regulation of heart contraction. Predicted to localize to integral component of mitochondrial outer membrane. Used to study Barth syndrome and visceral heterotaxy. Human ortholog(s) of this gene implicated in Barth syndrome and dilated cardiomyopathy. Is expressed in endoderm; head; immature eye; pericardial region; and post-vent region. Orthologous to human TAZ (tafazzin).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 5 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6909625 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Barth syndrome | Alliance | Barth syndrome | 302060 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Phospholipid/glycerol acyltransferase | Tafazzin |
---|---|---|---|
UniProtKB:A0A8M3AV28
|
259 | ||
UniProtKB:F1QCP6
|
262 | ||
UniProtKB:A0A8M9PEW5
|
175 |
Interactions and Pathways
No data available
Plasmids
No data available