FKRP encodes fukutin related protein (495 aa). Catalyzes the transfer of a ribitol 5-phosphate from CDP-L-ribitol to the ribitol 5-phosphate previously attached by FKTN/fukutin to the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1). Highest expression in Pituitary (19.7 TPM) and Uterus (18.0 TPM).

Muscular dystrophy-dystroglycanopathy type B5 is associated with mutations in the FKRP gene on chromosome 19.

The FKRP protein participates in POMGNT1 catalyzes FKRP:FKTN:RXYLT1 formation and FKTN transfers RboP to GalNAc-GlcNAc-ManP-DAG1 pathways.

FKRP is classified as a druggable target (Druggable Genome category) with score 0.0.

Genetic testing for FKRP is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for muscular dystrophy-dystroglycanopathy type B5 has been reported in the published literature.

Phenotype severity distribution: 4 always present features, 1 very common feature, 6 common features.

No clinical trials have been registered for muscular dystrophy-dystroglycanopathy type B5.

114 publications have been identified in PubMed for muscular dystrophy-dystroglycanopathy type B5. Research spans Case Report / Case Series (26%), Basic Science / Preclinical (25%), and Epidemiology / Natural History (18%).

Recent Publications

• Lee CL (2026). [PMID: 41828661](https://pubmed.ncbi.nlm.nih.gov/41828661/). *Int J Mol Sci*. [Epidemiology / Natural History]

• Moore D (2026). [PMID: 42619265](https://pubmed.ncbi.nlm.nih.gov/42619265/). *Mol Ther*. [Basic Science / Preclinical]

• Faisal A (2026). [PMID: 42387640](https://pubmed.ncbi.nlm.nih.gov/42387640/). *J Med Case Rep*. [Case Report / Case Series]

• Rossini E (2026). [PMID: 41251564](https://pubmed.ncbi.nlm.nih.gov/41251564/). *Muscle Nerve*. [Epidemiology / Natural History]

• Caramizaru A (2026). [PMID: 41826152](https://pubmed.ncbi.nlm.nih.gov/41826152/). *Neuropathol Appl Neurobiol*. [Case Report / Case Series]

• Kilicarslan OA (2026). [PMID: 41498167](https://pubmed.ncbi.nlm.nih.gov/41498167/). *Clin Genet*. [Case Report / Case Series]

• Johari M (2026). [PMID: 41678358](https://pubmed.ncbi.nlm.nih.gov/41678358/). *Brain*. [Basic Science / Preclinical]

• Hidalgo Mayoral I (2026). [PMID: 41022664](https://pubmed.ncbi.nlm.nih.gov/41022664/). *Clin Genet*. [Basic Science / Preclinical]

• El-Hayek S (2026). [PMID: 41904993](https://pubmed.ncbi.nlm.nih.gov/41904993/). *J Neuromuscul Dis*. [Epidemiology / Natural History]

• Lütkemeyer A (2026). [PMID: 41880120](https://pubmed.ncbi.nlm.nih.gov/41880120/). *Mol Biol Rep*. [Basic Science / Preclinical]