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
Expression
All Expression Data
5 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
26 figures from 5 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With fkrp Human Ortholog
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
Associated With fkrp Via Experimental Models
Human Disease Fish Conditions Citations
muscular dystrophy AB + MO1-fkrp control Thornhill et al., 2008
Gene Ontology
Protein Domains
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
Transcripts
Genome Browsers
No data available
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-fkrp polyclonal Rabbit
  • WB
Life Technologies (Invitrogen)
2
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Gene Tree
Ensembl
Citations