Gene
crtap
- ID
- ZDB-GENE-040426-2619
- Name
- cartilage associated protein
- Symbol
- crtap Nomenclature History
- Previous Names
-
- wu:fb47h01
- zgc:85621
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Predicted to be involved in peptidyl-proline hydroxylation to 3-hydroxy-L-proline. Predicted to localize to endoplasmic reticulum. Human ortholog(s) of this gene implicated in osteogenesis imperfecta type 7. Is expressed in notochord; otic vesicle; pectoral fin; periderm; and pharyngeal arch. Orthologous to human CRTAP (cartilage associated protein).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:85621 (11 images)
Wild Type Expression Summary
- All Phenotype Data
- 5 figures from Tonelli et al., 2020
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| osteogenesis imperfecta type 7 | Alliance | Osteogenesis imperfecta, type VII | 610682 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Collagen-modifying leprecan protein | Tetratricopeptide-like helical domain superfamily |
|---|---|---|---|
|
UniProtKB:Q6NWL3
|
396 |
Interactions and Pathways
No data available
Plasmids
No data available