FKTN

Chr 9

fukutin

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

NCBI Gene: 2218ENSG00000106692UniProt: O75072

The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2010]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4
UniProtMuscular dystrophy-dystroglycanopathy congenital without impaired intellectual development B4
UniProtMuscular dystrophy-dystroglycanopathy limb-girdle C4
UniProtCardiomyopathy, dilated, 1X

Clinical highlights

Gene-disease validity (ClinGen)
myopathy caused by variation in FKTN · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
2
Active trials
11
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.84
LOEUF
LOF
Mechanism· G2P
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GeneReview available — FKTN
Authoritative clinical overview · Recommended first read
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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 OE?0.54 (0.35–0.84)
0≤0.351.4
Missense OE?1.01 (0.91–1.12)
0≤0.61.4
Synonymous OE?0.83
0≤1.21.6
LoF obs/exp: 14 / 26.0Missense obs/exp: 239 / 237.0Syn Z: 1.24

ClinVar Variant Classifications

0 submitted variants in ClinVar

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.

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