Gene
fktn
- ID
- ZDB-GENE-070410-96
- Name
- fukutin
- Symbol
- fktn Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Involved in muscle fiber development; regulation of protein glycosylation; and vasculogenesis. Human ortholog(s) of this gene implicated in dilated cardiomyopathy (multiple) and muscular dystrophy (multiple). Is expressed in several structures, including brain; cloacal chamber; fin bud; myotome; and shield. Orthologous to human FKTN (fukutin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7163166 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive limb-girdle muscular dystrophy type 2M | Alliance | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 | 611588 |
| dilated cardiomyopathy 1X | Alliance | Cardiomyopathy, dilated, 1X | 611615 |
| Fukuyama congenital muscular dystrophy | Alliance | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 253800 |
| muscular dystrophy-dystroglycanopathy type B4 | Alliance | Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 4 | 613152 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | LicD/FKTN/FKRP, nucleotidyltransferase domain | Ribitol-5-phosphate transferase FKTN, N-terminal | Ribitol-5-phosphate transferase FKTN-related |
|---|---|---|---|---|
|
UniProtKB:A3KP10
|
457 | |||
|
UniProtKB:A0A8M9PWZ8
|
418 |
Interactions and Pathways
No data available
Plasmids
No data available