Gene
fhl1b
- ID
- ZDB-GENE-031219-1
- Name
- four and a half LIM domains 1b
- Symbol
- fhl1b Nomenclature History
- Previous Names
-
- fhl
- cb1039 (1)
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Predicted to have metal ion binding activity. Involved in animal organ development; calcium ion homeostasis; and locomotory behavior. Human ortholog(s) of this gene implicated in X-linked Emery-Dreifuss muscular dystrophy 6. Is expressed in several structures, including cardiovascular system; digestive system; hypochord; liver primordium; and musculature system. Orthologous to human FHL1 (four and a half LIM domains 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb1039 (16 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| reducing body myopathy 1A | Alliance | Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset | 300717 |
| reducing body myopathy 1B | Alliance | Reducing body myopathy, X-linked 1b, with late childhood or adult onset | 300718 |
| scapuloperoneal myopathy | Alliance | Scapuloperoneal myopathy, X-linked dominant | 300695 |
| Uruguay faciocardiomusculoskeletal syndrome | Alliance | ?Uruguay faciocardiomusculoskeletal syndrome | 300280 |
| X-linked Emery-Dreifuss muscular dystrophy 6 | Alliance | Emery-Dreifuss muscular dystrophy 6, X-linked | 300696 |
| X-linked Emery-Dreifuss muscular dystrophy 6 | Alliance | Myopathy, X-linked, with postural muscle atrophy | 300696 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Four and a half LIM domains protein 1 | Zinc finger, LIM-type |
|---|---|---|---|
|
UniProtKB:F1Q7A2
|
280 | ||
|
UniProtKB:Q7T327
|
280 |
Interactions and Pathways
No data available
Plasmids
No data available