Gene
ankha
- ID
- ZDB-GENE-050913-33
- Name
- ANKH inorganic pyrophosphate transport regulator a
- Symbol
- ankha Nomenclature History
- Previous Names
-
- wu:fj64g09
- zgc:110290 (1)
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Predicted to enable inorganic diphosphate transmembrane transporter activity and phosphate transmembrane transporter activity. Predicted to be located in membrane. Predicted to be active in plasma membrane. Is expressed in brain; head; myotome; and notochord. Human ortholog(s) of this gene implicated in autosomal dominant craniometaphyseal dysplasia and chondrocalcinosis. Orthologous to human ANKH (ANKH inorganic pyrophosphate transport regulator).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6906610 (1 image)
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 |
|---|---|---|---|
| autosomal dominant craniometaphyseal dysplasia | Alliance | Craniometaphyseal dysplasia | 123000 |
| chondrocalcinosis | Alliance | Chondrocalcinosis 2 | 118600 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR009887 | Progressive ankylosis |
Domain Details Per Protein
| Protein | Additional Resources | Length | Progressive ankylosis |
|---|---|---|---|
| UniProtKB:A0A8M9PU68 | InterPro | 384 | |
| UniProtKB:F1Q528 | InterPro | 496 | |
| UniProtKB:A0AB32TCZ5 | InterPro | 407 |
Interactions and Pathways
No data available
Plasmids
No data available