Page last updated: 2024-09-27
Giant Axonal Neuropathy
Rare autosomal recessive disorder of INTERMEDIATE FILAMENT PROTEINS. The disease is caused by mutations in the gene that codes gigaxonin protein. The mutations result in disorganization of axonal NEUROFILAMENT PROTEINS, formation of the characteristic giant axons, and progressive neuropathy. The clinical features of the disease include early-onset progressive peripheral motor and sensory neuropathies often associated with central nervous system involvement (INTELLECTUAL DISABILITY, seizures, DYSMETRIA, and CONGENITAL NYSTAGMUS).
Synonyms(6)
| Synonym |
|---|
| Giant Axonal Neuropathy 1 (GAN1) |
| Giant Axonal Neuropathy |
| Giant Axonal Neuropathy 1 |
| Neuropathy, Giant Axonal, Autosomal Recessive |
| Giant Axonal Neuropathy (GAN) |
| Neuropathy, Giant Axonal |
Research
Studies (8)
| Timeframe | Studies, This Condition (%) | All Conditions % |
|---|
| pre-1990 | 0 (0.00) | 23.3326 |
| 1990's | 0 (0.00) | 12.5806 |
| 2000's | 0 (0.00) | 18.1394 |
| 2010's | 5 (62.50) | 28.8240 |
| 2020's | 3 (37.50) | 9.53 |
Protein Targets (95)
| Protein | Potency Measurements | Inhibition Measurements | Activation Measurements | Drugs |
|---|
| Putative glycosyltransferase WbgO | 0 | 0 | 0 | 1 |
| Cytochrome P450 3A4 | 0 | 1 | 0 | 1 |
| Cannabinoid receptor 1 | 0 | 1 | 0 | 1 |
| Killer cell lectin-like receptor subfamily B member 1A | 0 | 1 | 0 | 1 |
| Early activation antigen CD69 | 0 | 1 | 0 | 1 |
| Proteasome subunit beta type-11 | 0 | 1 | 0 | 1 |
| Fumarate hydratase | 2 | 0 | 0 | 2 |
| PPM1D protein | 2 | 0 | 0 | 2 |
| aldehyde dehydrogenase 1 family, member A1 | 2 | 0 | 0 | 2 |
| EWS/FLI fusion protein | 2 | 0 | 0 | 2 |
| polyprotein | 2 | 0 | 0 | 2 |
| euchromatic histone-lysine N-methyltransferase 2 | 1 | 0 | 0 | 1 |
| vitamin D3 receptor isoform VDRA | 1 | 0 | 0 | 1 |
| survival motor neuron protein isoform d | 1 | 0 | 0 | 1 |
| Calpain-9 | 0 | 1 | 0 | 1 |
| Proteasome subunit alpha type-7 | 0 | 1 | 0 | 1 |
| Interferon beta | 2 | 0 | 0 | 2 |
| Cathepsin B | 0 | 1 | 0 | 1 |
| Replicase polyprotein 1ab | 0 | 1 | 0 | 1 |
| Replicase polyprotein 1ab | 0 | 1 | 0 | 1 |
| Aromatase | 0 | 1 | 0 | 1 |
| Indoleamine 2,3-dioxygenase 1 | 0 | 1 | 0 | 1 |
| Calpain-2 catalytic subunit | 0 | 1 | 0 | 1 |
| Proteasome subunit beta type-1 | 0 | 2 | 0 | 2 |
| Proteasome subunit alpha type-1 | 0 | 1 | 0 | 1 |
| Proteasome subunit alpha type-2 | 0 | 1 | 0 | 1 |
| Proteasome subunit alpha type-3 | 0 | 1 | 0 | 1 |
| Proteasome subunit alpha type-4 | 0 | 1 | 0 | 1 |
| NF-kappa-B inhibitor alpha | 0 | 0 | 1 | 1 |
| Proteasome subunit beta type-8 | 0 | 1 | 0 | 1 |
| Proteasome subunit beta type-9 | 0 | 1 | 0 | 1 |
| Proteasome subunit alpha type-5 | 0 | 1 | 0 | 1 |
| Proteasome subunit beta type-4 | 0 | 1 | 0 | 1 |
| Proteasome subunit beta type-6 | 0 | 1 | 0 | 1 |
| Proteasome subunit beta type-5 | 0 | 2 | 0 | 2 |
| Proteasome subunit beta type-10 | 0 | 1 | 0 | 1 |
| Cathepsin K | 0 | 1 | 0 | 1 |
| Proteasome subunit beta type-3 | 0 | 1 | 0 | 1 |
| Proteasome subunit beta type-2 | 0 | 2 | 0 | 2 |
| Proteasome subunit alpha type-6 | 0 | 1 | 0 | 1 |
| Proteasome subunit alpha-type 8 | 0 | 1 | 0 | 1 |
| Proteasome subunit beta type-7 | 0 | 1 | 0 | 1 |
| Gamma-secretase subunit PEN-2 | 0 | 1 | 0 | 1 |
| RAR-related orphan receptor gamma | 2 | 0 | 0 | 2 |
| AR protein | 1 | 0 | 0 | 1 |
| nuclear receptor subfamily 1, group I, member 3 | 2 | 0 | 0 | 2 |
| retinoic acid nuclear receptor alpha variant 1 | 3 | 0 | 0 | 3 |
| thyroid stimulating hormone receptor | 1 | 0 | 0 | 1 |
| nuclear factor erythroid 2-related factor 2 isoform 1 | 1 | 0 | 0 | 1 |
| Cellular tumor antigen p53 | 1 | 0 | 0 | 1 |
| Nuclear receptor ROR-gamma | 1 | 0 | 0 | 1 |
| Chain A, Protein (aspartate Aminotransferase) | 0 | 0 | 1 | 1 |
| Chain A, Aspartate Aminotransferase | 0 | 0 | 1 | 1 |
| acetylcholinesterase | 1 | 0 | 0 | 1 |
| estrogen receptor 2 (ER beta) | 1 | 0 | 0 | 1 |
| estrogen-related nuclear receptor alpha | 1 | 0 | 0 | 1 |
| estrogen nuclear receptor alpha | 1 | 0 | 0 | 1 |
| thyroid hormone receptor beta isoform 2 | 1 | 0 | 0 | 1 |
| Solute carrier family 22 member 6 | 0 | 1 | 0 | 2 |
| Solute carrier family 22 member 20 | 0 | 1 | 0 | 1 |
| Solute carrier family 22 member 6 | 0 | 1 | 0 | 1 |
| Solute carrier family 22 member 7 | 0 | 0 | 0 | 1 |
| Chain A, 2-oxoglutarate Oxygenase | 1 | 0 | 0 | 1 |
| phosphopantetheinyl transferase | 1 | 0 | 0 | 1 |
| DNA polymerase kappa isoform 1 | 1 | 0 | 0 | 1 |
| muscarinic acetylcholine receptor M1 | 1 | 0 | 0 | 1 |
| lethal factor (plasmid) | 1 | 0 | 0 | 1 |
| Acetylcholinesterase | 0 | 1 | 0 | 1 |
| Pyruvate kinase PKM | 0 | 0 | 1 | 1 |
| Neutral amino acid transporter A | 0 | 1 | 0 | 1 |
| Cholinesterase | 0 | 1 | 0 | 1 |
| Neutral amino acid transporter B(0) | 0 | 1 | 0 | 1 |
| Proton-coupled amino acid transporter 1 | 0 | 1 | 0 | 1 |
| Amino acid transporter | 0 | 1 | 0 | 1 |
| activating transcription factor 6 | 1 | 0 | 0 | 1 |
| Histone deacetylase 8 | 0 | 1 | 0 | 1 |
| cytochrome P450 family 3 subfamily A polypeptide 4 | 1 | 0 | 0 | 1 |
| cytochrome P450 2D6 | 1 | 0 | 0 | 1 |
| Polyamine deacetylase HDAC10 | 0 | 1 | 0 | 1 |
| Histone deacetylase 1 | 0 | 1 | 0 | 1 |
| Histone deacetylase 3 | 0 | 1 | 0 | 1 |
| Cytochrome P450 2D6 | 0 | 1 | 0 | 1 |
| Cytochrome P450 2C19 | 0 | 1 | 0 | 1 |
| Histone deacetylase 4 | 0 | 2 | 0 | 2 |
| Histone deacetylase 1 | 0 | 2 | 0 | 2 |
| Histone deacetylase 7 | 0 | 1 | 0 | 1 |
| Histone deacetylase 2 | 0 | 2 | 0 | 2 |
| Polyamine deacetylase HDAC10 | 0 | 1 | 0 | 1 |
| Histone deacetylase 11 | 0 | 1 | 0 | 1 |
| Histone deacetylase 8 | 0 | 2 | 0 | 2 |
| Histone deacetylase 6 | 0 | 2 | 1 | 4 |
| Histone deacetylase 9 | 0 | 1 | 0 | 1 |
| Histone deacetylase 5 | 0 | 1 | 0 | 1 |
| Nuclear receptor corepressor 2 | 0 | 1 | 0 | 1 |
| Histone deacetylase 6 | 0 | 1 | 1 | 2 |
| [prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023] |