GAN

Chr 16q23.2

gigaxonin

Aliases:: GAN1, KLHL16, GIG
MANE:: ENST00000648994.2

OMIM: 605379 ↗NCBI: 8139 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

GAN · Q9H2C0

v62025-08-01

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

Mean pLDDT

89.9/ 100

Confident

597 residues

Confidence breakdown

Very high(≥ 90)70%
Confident(70–90)23%
Low(50–70)6%
Very low(< 50)1%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

giant axonal neuropathy
0.78
hereditary disease
0.51
spinal stenosis
0.27
peripheral neuropathy
0.27
Hypotonia
0.26
Intellectual disability
0.26
Abnormality of the skeletal system
0.26
endocrine gland neoplasm
0.25
Charcot-Marie-Tooth disease
0.17
sign or symptom
0.14

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

Protein function (UniProt)

Gigaxonin

Probable cytoskeletal component that directly or indirectly plays an important role in neurofilament architecture. May act as a substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Controls degradation of TBCB. Controls degradation of MAP1B and MAP1S, and is critical for neuronal maintenance and survival