NEFH

Chr 22q12.2

neurofilament heavy chain

Aliases:: NF-H, NFH
MANE:: ENST00000310624.7

OMIM: 162230 ↗NCBI: 4744 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

NEFH · P12036

v62025-08-01

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

Mean pLDDT

53.5/ 100

Low

1,020 residues

Confidence breakdown

Very high(≥ 90)17%
Confident(70–90)11%
Low(50–70)6%
Very low(< 50)66%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Hereditary neuropathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary neuropathy or pain disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Amyotrophic lateral sclerosis/motor neuron disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Optic neuropathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

Charcot-Marie-Tooth disease axonal type 2CC
0.66
Charcot-Marie-Tooth disease type 2
0.56
amyotrophic lateral sclerosis
0.49
Abnormality of the skeletal system
0.35
hereditary disease
0.34
Charcot-Marie-Tooth disease axonal type 2C
0.27
lacrimal apparatus disorder
0.22
Parkinson disease
0.17
Alzheimer disease
0.17
multiple sclerosis
0.16

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

Protein function (UniProt)

Neurofilament heavy polypeptide

Neurofilaments usually contain three intermediate filament proteins: NEFL, NEFM, and NEFH which are involved in the maintenance of neuronal caliber. NEFH has an important function in mature axons that is not subserved by the two smaller NF proteins. May additionally cooperate with the neuronal intermediate filament proteins PRPH and INA to form neuronal filamentous networks (By similarity)