NFASC

Chr 1q32.1

neurofascin

Aliases:: NRCAML, KIAA0756, FLJ46866, NF
MANE:: ENST00000339876.11

OMIM: 609145 ↗NCBI: 23114 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

NFASC · O94856

v62025-08-01

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

Mean pLDDT

76.3/ 100

Confident

1,347 residues

Confidence breakdown

Very high(≥ 90)40%
Confident(70–90)35%
Low(50–70)5%
Very low(< 50)20%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodevelopmental disorder with central and peripheral motor dysfunction
0.77
hereditary disease
0.42
risk-taking behaviour
0.36
hair color
0.32
dermatophytosis
0.30
neoplasm
0.26
circadian rhythm
0.23
spondylolisthesis
0.20
musculoskeletal system disorder
0.20
neurodegenerative disease
0.17

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

Protein function (UniProt)

Neurofascin

Cell adhesion, ankyrin-binding protein which may be involved in neurite extension, axonal guidance, synaptogenesis, myelination and neuron-glial cell interactions