Gene
fhl1a
- ID
- ZDB-GENE-040206-1
- Name
- four and a half LIM domains 1a
- Symbol
- fhl1a Nomenclature History
- Previous Names
-
- fhla
- zgc:92025
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to have ion channel binding activity. Involved in heart development; locomotory behavior; and skeletal muscle tissue development. Localizes to Z disc. Is expressed in several structures, including adaxial cell; blastomere; heart rudiment; musculature system; and pericardial region. Used to study myopathy. Human ortholog(s) of this gene implicated in X-linked Emery-Dreifuss muscular dystrophy 6; reducing body myopathy 1A; and reducing body myopathy 1B. Orthologous to human FHL1 (four and a half LIM domains 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 19 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu340 (12 images)
- IMAGE:7156115 (19 images)
Wild Type Expression Summary
- All Phenotype Data
- 14 figures from 4 publications
- Cross-Species Comparison
- Alliance
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 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| myopathy | WT + MO3-fhl1a | standard conditions | Keßler et al., 2018 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Four and a half LIM domains protein 1 | Zinc finger, LIM-type |
|---|---|---|---|
|
UniProtKB:A0A140LFQ9
|
281 | ||
|
UniProtKB:Q6GQL7
|
297 |
Interactions and Pathways
No data available
Plasmids
No data available