GAN Chromosome 16
Gigaxonin
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What This Gene Does
This gene encodes a member of the cytoskeletal BTB/kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. The encoded protein plays a role in neurofilament architecture and is involved in mediating the ubiquitination and degradation of some proteins. Defects in this gene are a cause of giant axonal neuropathy (GAN). [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
"Kelch like|BTB domain containing|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
16q23.2
Ensembl
ENSG00000261609
Associated Conditions (9)
Giant axonal neuropathy 1
Inborn genetic diseases
Giant axonal neuropathy
GAN-related disorder
Peripheral neuropathy
Charcot-Marie-Tooth disease
Intellectual disability
Squamous cell carcinoma of the head and neck
See cases
Key Variants
RS119485089
Conflicting classifications of pathogenicity
Giant axonal neuropathy 1, Giant axonal neuropathy 1
Health Risk
RS119485093
Conflicting classifications of pathogenicity
Giant axonal neuropathy 1, Giant axonal neuropathy 1
Health Risk
RS119485094
Conflicting classifications of pathogenicity
Giant axonal neuropathy 1, Giant axonal neuropathy 1
Health Risk
RS119485095
Conflicting classifications of pathogenicity
Giant axonal neuropathy 1, Giant axonal neuropathy 1
Health Risk
RS141396595
Conflicting classifications of pathogenicity
Giant axonal neuropathy 1, Inborn genetic diseases, Giant axonal neuropathy 1
Health Risk
RS143704621
Conflicting classifications of pathogenicity
Giant axonal neuropathy 1, Giant axonal neuropathy 1
Health Risk
RS144486241
Conflicting classifications of pathogenicity
Giant axonal neuropathy 1, Inborn genetic diseases, Giant axonal neuropathy
Health Risk
RS146576740
Conflicting classifications of pathogenicity
Giant axonal neuropathy 1, Inborn genetic diseases, GAN-related disorder
Health Risk
RS150344737
Conflicting classifications of pathogenicity
Giant axonal neuropathy 1, GAN-related disorder, Giant axonal neuropathy 1
Health Risk
RS1567491395
Conflicting classifications of pathogenicity
Giant axonal neuropathy 1, Giant axonal neuropathy 1
Health Risk
RS1567494825
Conflicting classifications of pathogenicity
Giant axonal neuropathy 1, Peripheral neuropathy, Giant axonal neuropathy 1
Health Risk
RS1597385624
Conflicting classifications of pathogenicity
Giant axonal neuropathy 1, Giant axonal neuropathy 1
Health Risk
All Variants (74)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1597407138 | Health Risk | Pathogenic | Giant axonal neuropathy 1, Giant axonal neuropathy 1 |
| RS1910419866 | Health Risk | Pathogenic | Giant axonal neuropathy 1, Giant axonal neuropathy 1 |
| RS1910760503 | Health Risk | Pathogenic | Giant axonal neuropathy 1, Giant axonal neuropathy 1 |
| RS2150685528 | Health Risk | Pathogenic | Giant axonal neuropathy 1, Giant axonal neuropathy 1 |
| RS2150687608 | Health Risk | Pathogenic | Giant axonal neuropathy 1, Giant axonal neuropathy 1 |
| RS2150690197 | Health Risk | Pathogenic | Giant axonal neuropathy 1, Giant axonal neuropathy 1 |
| RS2150691981 | Health Risk | Pathogenic | Giant axonal neuropathy 1, Giant axonal neuropathy 1 |
| RS2507669361 | Health Risk | Pathogenic | Giant axonal neuropathy 1, Giant axonal neuropathy 1 |
| RS2507724069 | Health Risk | Pathogenic | Giant axonal neuropathy 1, Giant axonal neuropathy 1 |
| RS2507728999 | Health Risk | Pathogenic | Giant axonal neuropathy 1, Giant axonal neuropathy 1 |
| RS2507733062 | Health Risk | Pathogenic | Giant axonal neuropathy 1, Giant axonal neuropathy 1 |
| RS2507735150 | Health Risk | Pathogenic | Giant axonal neuropathy 1, Giant axonal neuropathy 1 |
| RS2507746889 | Health Risk | Pathogenic | Inborn genetic diseases, Giant axonal neuropathy 1, Inborn genetic diseases |
| RS2507747114 | Health Risk | Pathogenic | Giant axonal neuropathy 1, Giant axonal neuropathy 1 |
| RS370358470 | Health Risk | Pathogenic | Giant axonal neuropathy 1, Giant axonal neuropathy 1 |
| RS752274190 | Health Risk | Pathogenic | Giant axonal neuropathy 1, Giant axonal neuropathy 1 |
| RS756446204 | Health Risk | Pathogenic | Giant axonal neuropathy 1, Giant axonal neuropathy 1 |
| RS776404697 | Health Risk | Pathogenic | Giant axonal neuropathy 1, Giant axonal neuropathy 1 |
| RS879254001 | Health Risk | Pathogenic | — |
| RS119485088 | Health Risk | Pathogenic/Likely pathogenic | Giant axonal neuropathy 1, Inborn genetic diseases, Giant axonal neuropathy 1 |
| RS1555511978 | Health Risk | Pathogenic/Likely pathogenic | Giant axonal neuropathy 1, See cases, Giant axonal neuropathy 1 |
| RS1910429809 | Health Risk | Pathogenic/Likely pathogenic | Giant axonal neuropathy 1, Giant axonal neuropathy 1 |
| RS746486469 | Health Risk | Pathogenic/Likely pathogenic | Giant axonal neuropathy 1, Giant axonal neuropathy 1 |
| RS747291494 | Health Risk | Pathogenic/Likely pathogenic | Giant axonal neuropathy 1, Inborn genetic diseases, Giant axonal neuropathy 1 |