FKTN

Chr 9

fukutin

Also known as: CMD1X, FCMD, LGMD2M, LGMDR13, MDDGA4, MDDGB4, MDDGC4

NCBI Gene: 2218ENSG00000106692UniProt: O75072

The encoded protein is a Golgi-localized glycosyltransferase that glycosylates alpha-dystroglycan, which is essential for proper muscle and brain function. Autosomal recessive mutations cause a spectrum of dystroglycanopathies ranging from severe congenital muscular dystrophy with brain and eye anomalies (including Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome) to milder limb-girdle muscular dystrophy and dilated cardiomyopathy. The pathogenic mechanism involves defective glycosylation of alpha-dystroglycan, leading to impaired muscle membrane stability and abnormal neuronal migration during brain development.

GeneReviewsResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismLOEUF 0.84
Clinical Summary— FKTN
🧬
Gene-Disease Validity (ClinGen)
myopathy caused by variation in FKTN · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
111 unique Pathogenic / Likely Pathogenic· 178 VUS of 500 total submissions
💊
Clinical Trials
2 active or recruiting trials — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →
📖
GeneReview available — FKTN
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.84LOEUF
pLI 0.000
Z-score 2.18
OE 0.54 (0.35–0.84)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
-0.05Z-score
OE missense 1.01 (0.91–1.12)
239 obs / 237.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.54 (0.35–0.84)
0≤0.351.4
Missense OE1.01 (0.91–1.12)
0≤0.61.4
Synonymous OE0.83
0≤1.21.6
LoF obs/exp: 14 / 26.0Missense obs/exp: 239 / 237.0Syn Z: 1.24

ClinVar Variant Classifications

500 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic35
Likely Pathogenic76
VUS178
Likely Benign191
Benign5
Conflicting2
35
Pathogenic
76
Likely Pathogenic
178
VUS
191
Likely Benign
5
Benign
2
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
20
0
15
0
35
Likely Pathogenic
67
5
3
1
76
VUS
4
154
16
4
178
Likely Benign
2
6
88
95
191
Benign
0
0
5
0
5
Conflicting
—2
Total93165127100487

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

FKTN · protein map & ClinVar variants

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

3D Protein StructureAlphaFold
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
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