FKRP

Chr 19AR

fukutin related protein

Also known as: FKTR, LGMD2I, LGMDR9, MDC1C, MDDGA5, MDDGB5, MDDGC5

NCBI Gene: 79147ENSG00000181027UniProt: Q9H9S5OMIM: 606596

The protein is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations cause autosomal recessive muscular dystrophy-dystroglycanopathy with a spectrum ranging from severe congenital forms with brain and eye anomalies to milder limb-girdle presentations, often with cognitive disability and cerebellar cysts. The pathogenicity results from defective dystroglycan modification leading to impaired muscle membrane stability and brain development.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismARLOEUF 1.323 OMIM phenotypes
VCEP Guidelines: Limb Girdle Muscular DystrophyReleased
ClinGen Panel
Clinical Summary— FKRP
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Gene-Disease Validity (ClinGen)
myopathy caused by variation in FKRP · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Clinical Trials
3 active or recruiting trials — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.32LOEUF
pLI 0.000
Z-score 0.78
OE 0.76 (0.46–1.32)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
1.85Z-score
OE missense 0.71 (0.64–0.79)
230 obs / 323.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.76 (0.46–1.32)
0≤0.351.4
Missense OE0.71 (0.64–0.79)
0≤0.61.4
Synonymous OE0.79
0≤1.21.6
LoF obs/exp: 9 / 11.9Missense obs/exp: 230 / 323.6Syn Z: 2.05

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FKRP · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold
Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Ribitol and ribose treatments differentially affect metabolism of muscle tissue in FKRP mutant mice.
Cataldi MP et al.·Sci Rep
2025Open Access
Prospective observational study of FKRP-related limb-girdle muscular dystrophy R9: A GRASP consortium study.
Alfano LN et al.·Ann Clin Transl Neurol
2025Open Access
Molecular Study of the Fukutin-Related Protein (FKRP) Gene in Patients from Southern Italy with Duchenne/Becker-like Phenotype.
Qualtieri A et al.·Int J Mol Sci
2024Open AccessCohort
Dual FKRP/FST gene therapy normalizes ambulation, increases strength, decreases pathology, and amplifies gene expression in LGMDR9 mice.
Lam P et al.·Mol Ther
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.
Lu QL et al.·J Neuromuscul Dis
2024Open AccessReview
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients