Gene
acd
- ID
- ZDB-GENE-081022-45
- Name
- ACD shelterin complex subunit and telomerase recruitment factor
- Symbol
- acd Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Exhibits telomeric DNA binding activity. Involved in heart development and negative regulation of apoptotic process. Predicted to localize to shelterin complex. Human ortholog(s) of this gene implicated in autosomal dominant dyskeratosis congenita 6. Orthologous to human ACD (ACD shelterin complex subunit and telomerase recruitment factor).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Ma et al., 2022
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant dyskeratosis congenita 6 | Alliance | ?Dyskeratosis congenita, autosomal dominant 6 | 616553 |
| autosomal dominant dyskeratosis congenita 6 | Alliance | ?Dyskeratosis congenita, autosomal recessive 7 | 616553 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Adrenocortical dysplasia protein | Shelterin complex subunit TPP1/Est3 |
|---|---|---|---|
|
UniProtKB:B3DGY9
|
459 | ||
|
UniProtKB:A0A1D5NT19
|
487 |
Interactions and Pathways
No data available
Plasmids
No data available