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)

TimeframeStudies, This Condition (%)All Conditions %
pre-19900 (0.00)23.3326
1990's0 (0.00)12.5806
2000's0 (0.00)18.1394
2010's5 (62.50)28.8240
2020's3 (37.50)9.53
DrugIndicatedRelationship StrengthStudiesTrials
glutaric acid0low10
serine0low10
threonine0low10
acetylglucosamine0low10
leupeptins0low10
benzyloxycarbonylleucyl-leucyl-leucine aldehyde0low10
bromochloroacetic acid0low20
calpain0low10
tubastatin a0low10
hyaluronoglucosaminidase0low10

Protein Targets (95)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Putative glycosyltransferase WbgO0001
Cytochrome P450 3A40101
Cannabinoid receptor 10101
Killer cell lectin-like receptor subfamily B member 1A0101
Early activation antigen CD690101
Proteasome subunit beta type-110101
Fumarate hydratase2002
PPM1D protein2002
aldehyde dehydrogenase 1 family, member A12002
EWS/FLI fusion protein2002
polyprotein2002
euchromatic histone-lysine N-methyltransferase 21001
vitamin D3 receptor isoform VDRA1001
survival motor neuron protein isoform d1001
Calpain-90101
Proteasome subunit alpha type-70101
Interferon beta2002
Cathepsin B0101
Replicase polyprotein 1ab0101
Replicase polyprotein 1ab0101
Aromatase0101
Indoleamine 2,3-dioxygenase 10101
Calpain-2 catalytic subunit0101
Proteasome subunit beta type-10202
Proteasome subunit alpha type-10101
Proteasome subunit alpha type-20101
Proteasome subunit alpha type-30101
Proteasome subunit alpha type-40101
NF-kappa-B inhibitor alpha0011
Proteasome subunit beta type-80101
Proteasome subunit beta type-90101
Proteasome subunit alpha type-50101
Proteasome subunit beta type-40101
Proteasome subunit beta type-60101
Proteasome subunit beta type-50202
Proteasome subunit beta type-100101
Cathepsin K0101
Proteasome subunit beta type-30101
Proteasome subunit beta type-20202
Proteasome subunit alpha type-60101
Proteasome subunit alpha-type 80101
Proteasome subunit beta type-70101
Gamma-secretase subunit PEN-20101
RAR-related orphan receptor gamma2002
AR protein1001
nuclear receptor subfamily 1, group I, member 32002
retinoic acid nuclear receptor alpha variant 13003
thyroid stimulating hormone receptor1001
nuclear factor erythroid 2-related factor 2 isoform 11001
Cellular tumor antigen p531001
Nuclear receptor ROR-gamma1001
Chain A, Protein (aspartate Aminotransferase)0011
Chain A, Aspartate Aminotransferase0011
acetylcholinesterase1001
estrogen receptor 2 (ER beta)1001
estrogen-related nuclear receptor alpha1001
estrogen nuclear receptor alpha1001
thyroid hormone receptor beta isoform 21001
Solute carrier family 22 member 60102
Solute carrier family 22 member 200101
Solute carrier family 22 member 60101
Solute carrier family 22 member 70001
Chain A, 2-oxoglutarate Oxygenase1001
phosphopantetheinyl transferase1001
DNA polymerase kappa isoform 11001
muscarinic acetylcholine receptor M11001
lethal factor (plasmid)1001
Acetylcholinesterase0101
Pyruvate kinase PKM0011
Neutral amino acid transporter A0101
Cholinesterase0101
Neutral amino acid transporter B(0)0101
Proton-coupled amino acid transporter 10101
Amino acid transporter0101
activating transcription factor 61001
Histone deacetylase 80101
cytochrome P450 family 3 subfamily A polypeptide 41001
cytochrome P450 2D61001
Polyamine deacetylase HDAC100101
Histone deacetylase 10101
Histone deacetylase 30101
Cytochrome P450 2D60101
Cytochrome P450 2C190101
Histone deacetylase 40202
Histone deacetylase 10202
Histone deacetylase 70101
Histone deacetylase 20202
Polyamine deacetylase HDAC100101
Histone deacetylase 11 0101
Histone deacetylase 80202
Histone deacetylase 60214
Histone deacetylase 90101
Histone deacetylase 50101
Nuclear receptor corepressor 20101
Histone deacetylase 60112
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]