FKTN

Chr 9q31.2

fukutin

Aliases:: LGMD2M
MANE:: ENST00000357998.10

OMIM: 607440 ↗NCBI: 2218 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

FKTN · O75072

v62025-08-01

Predicted Aligned Error matrix for FKTN — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

91.9/ 100

Very high

461 residues

Confidence breakdown

Very high(≥ 90)84%
Confident(70–90)10%
Low(50–70)2%
Very low(< 50)4%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Arthrogryposis
BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomal
Cerebellar hypoplasia
BIALLELIC, autosomal or pseudoautosomal
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

+15 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

Congenital muscular dystrophy, Fukuyama type
0.83
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
0.81
autosomal recessive limb-girdle muscular dystrophy type 2M
0.81
muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
0.78
dilated cardiomyopathy 1X
0.77
muscular dystrophy-dystroglycanopathy, type A
0.76
muscle-eye-brain disease
0.67
familial isolated dilated cardiomyopathy
0.61
congenital muscular dystrophy without intellectual disability
0.60
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
0.57

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Ribitol-5-phosphate transferase FKTN

Catalyzes the transfer of a ribitol-phosphate from CDP-ribitol to the distal N-acetylgalactosamine 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) (PubMed:26923585, PubMed:27194101, PubMed:29477842). This constitutes the first step in the formation of the ribitol 5-phosphate tandem repeat which links the phosphorylated O-mannosyl trisaccharide to the ligand binding moiety composed of repeats of 3-xylosyl-alpha-1,3-glucuronic acid-beta-1 (PubMed:17034757, PubMed:25279699, PubMed:26923585, PubMed:27194101, PubMed:29477842). Required for normal location of POMGNT1 in Golgi membranes, and for normal POMGNT1 activity (PubMed:17034757). May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes (PubMed:25279699). Could be involved in brain development (Probable)