Gene
tbcd
- ID
- ZDB-GENE-060823-1
- Name
- tubulin folding cofactor D
- Symbol
- tbcd Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to enable GTPase activator activity and beta-tubulin binding activity. Acts upstream of or within brain development and retina layer formation. Predicted to be active in lateral plasma membrane. Human ortholog(s) of this gene implicated in early onset progressive encephalopathy with brain atrophy and thin corpus callosum. Orthologous to human TBCD (tubulin folding cofactor D).
- 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
- 1 Figure from Pode-Shakked et al., 2017
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| early onset progressive encephalopathy with brain atrophy and thin corpus callosum | Alliance | Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | 617193 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Armadillo-like helical | Armadillo-type fold | Tubulin-folding cofactor D | Tubulin-specific chaperone D, C-terminal |
|---|---|---|---|---|---|---|
| UniProtKB:A0A0R4IXD9 | InterPro | 1191 |
Interactions and Pathways
No data available
Plasmids
No data available