Gene
fkrp
- ID
- ZDB-GENE-070412-4
- Name
- fukutin related protein
- Symbol
- fkrp Nomenclature History
- Previous Names
-
- zgc:162829
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Involved in several processes, including muscle fiber development; regulation of protein glycosylation; and vasculogenesis. Predicted to localize to Golgi apparatus. Is expressed in several structures, including cloacal chamber; immature eye; nervous system; neural keel; and otic vesicle. Used to study muscular dystrophy. Human ortholog(s) of this gene implicated in dilated cardiomyopathy and muscular dystrophy (multiple). Orthologous to human FKRP (fukutin related protein).
- Genome Resources
- Note
- None
- All Expression Data
- 5 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
Wild Type Expression Summary
- All Phenotype Data
- 26 figures from 5 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
autosomal recessive limb-girdle muscular dystrophy type 2I | Alliance | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | 607155 |
congenital muscular dystrophy-dystroglycanopathy type A5 | Alliance | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 | 613153 |
muscular dystrophy-dystroglycanopathy type B5 | Alliance | Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 | 606612 |
Human Disease | Fish | Conditions | Citations |
---|---|---|---|
muscular dystrophy | AB + MO1-fkrp | control | Thornhill et al., 2008 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Family | IPR007074 | LicD family |
Domain Details Per Protein
Protein | Length | LicD family |
---|---|---|
UniProtKB:Q0PIP5
|
536 | |
UniProtKB:A4QP37
|
536 |
- Genome Browsers
Interactions and Pathways
No data available
Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
---|---|---|---|---|---|---|---|
Ab1-fkrp | polyclonal | Rabbit |
|
Life Technologies (Invitrogen)
|
2 |
Plasmids
No data available
- Gene Tree
- Ensembl