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
- Enables telomeric DNA binding activity. Acts upstream of or within aging; heart development; and negative regulation of apoptotic process. Predicted to be located in chromosome, telomeric region and nucleus. Predicted to be part of shelterin complex. Is expressed in blastomere; brain; and digestive system. 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