Identity
HGNC
LOCATION
19q13.32
LOCUSID
ALIAS
FKTR,LGMD2I,LGMDR9,MDC1C,MDDGA5,MDDGB5,MDDGC5
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 79147
MIM: 606596
HGNC: 17997
Ensembl: ENSG00000181027
Variants:
dbSNP: 79147
ClinVar: 79147
TCGA: ENSG00000181027
COSMIC: FKRP
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Metabolic pathways | KEGG | hsa01100 |
| Mannose type O-glycan biosynthesis | KEGG | ko00515 |
| Mannose type O-glycan biosynthesis | KEGG | hsa00515 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37695533 | 2024 | Insomnia and sleep-disordered breathing in FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020). | 0 |
| 37927270 | 2024 | Health-Related Quality of Life in FKRP-Related Limb-Girdle Muscular Dystrophy R9. | 0 |
| 38277301 | 2024 | Break Down of the Complexity and Inconsistency Between Levels of Matriglycan and Disease Phenotype in FKRP-Related Dystroglycanopathies: A Review and Model of Interpretation. | 0 |
| 37695533 | 2024 | Insomnia and sleep-disordered breathing in FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020). | 0 |
| 37927270 | 2024 | Health-Related Quality of Life in FKRP-Related Limb-Girdle Muscular Dystrophy R9. | 0 |
| 38277301 | 2024 | Break Down of the Complexity and Inconsistency Between Levels of Matriglycan and Disease Phenotype in FKRP-Related Dystroglycanopathies: A Review and Model of Interpretation. | 0 |
| 37154180 | 2023 | Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients. | 2 |
| 37154180 | 2023 | Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients. | 2 |
| 33272829 | 2021 | Fukutin-Related Protein: From Pathology to Treatments. | 7 |
| 34012031 | 2021 | FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy. | 13 |
| 34509255 | 2021 | FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients. | 3 |
| 34653404 | 2021 | Defective autophagy and increased apoptosis contribute toward the pathogenesis of FKRP-associated muscular dystrophies. | 6 |
| 33272829 | 2021 | Fukutin-Related Protein: From Pathology to Treatments. | 7 |
| 34012031 | 2021 | FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy. | 13 |
| 34509255 | 2021 | FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients. | 3 |
Citation
Dessen P
FKRP (fukutin related protein)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/63403/cancer-prone-explorer/meetings/
