Gene
ltbp1
- ID
- ZDB-GENE-091202-8
- Name
- latent transforming growth factor beta binding protein 1
- Symbol
- ltbp1 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to enable calcium ion binding activity. Acts upstream of or within several processes, including bone mineralization; bone morphogenesis; and collagen fibril organization. Predicted to be located in extracellular region. Is expressed in brain; bulbus arteriosus; head; pleuroperitoneal region; and trunk. Human ortholog(s) of this gene implicated in cutis laxa. Orthologous to human LTBP1 (latent transforming growth factor beta binding protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- 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 |
---|---|---|---|
Cutis laxa, autosomal recessive, type IIE | 619451 |
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
Protein | Length |
---|---|
UniProtKB:A0A8M6Z1R3
|
1471 |
UniProtKB:A0A8M9Q6K8
|
1384 |
UniProtKB:A0A8M9PVF2
|
1385 |
UniProtKB:A0A8M9PSN6
|
1232 |
UniProtKB:A0A8M6Z2F6
|
1527 |
UniProtKB:A0A8M9PYR1
|
1176 |
UniProtKB:A0A8M6YTB9
|
1526 |
UniProtKB:A0A8M9Q2F9
|
1329 |
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance