FKRP
Gene Information
- Official Symbol: FKRP
- Official Name: fukutin related protein
- Aliases and Previous Symbols: N/A
- Entrez ID: 79147
- UniProt: Q9H9S5
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez Summary: This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, cognitive disability, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2008].
- UniProt Summary: Transferase involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine- beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. {ECO:0000269|PubMed:25279699}.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 13222
- Expression level (log2 read counts): 5.09
FKRP Expression in NALM6 Cells: 5.09
