Identity
HGNC
LOCATION
16q23.2
LOCUSID
ALIAS
GAN1,GIG,KLHL16
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 8139
MIM: 605379
HGNC: 4137
Ensembl: ENSG00000261609
Variants:
dbSNP: 8139
ClinVar: 8139
TCGA: ENSG00000261609
COSMIC: GAN
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000261609 | ENST00000648349 | A0A3B3ITY2 |
| ENSG00000261609 | ENST00000648994 | Q9H2C0 |
| ENSG00000261609 | ENST00000648994 | A0A0S2Z4W2 |
| ENSG00000261609 | ENST00000650388 | A0A0S2Z5G5 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37043392 | 2023 | Gigaxonin is required for intermediate filament transport. | 4 |
| 37043392 | 2023 | Gigaxonin is required for intermediate filament transport. | 4 |
| 35764747 | 2022 | Two novel pathogenic mutations of GAN gene identified in a chinese family with giant axonal neuropathy: a case report. | 0 |
| 35764747 | 2022 | Two novel pathogenic mutations of GAN gene identified in a chinese family with giant axonal neuropathy: a case report. | 0 |
| 33528728 | 2021 | Giant axonal neuropathy with novel GAN pathogenic variant in a patient of consanguineous origin from Poonch Jammu and Kashmir-India. | 0 |
| 33528728 | 2021 | Giant axonal neuropathy with novel GAN pathogenic variant in a patient of consanguineous origin from Poonch Jammu and Kashmir-India. | 0 |
| 31655922 | 2020 | Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion. | 5 |
| 31852984 | 2020 | Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease. | 4 |
| 31655922 | 2020 | Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion. | 5 |
| 31852984 | 2020 | Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease. | 4 |
| 31503551 | 2019 | Sonic Hedgehog repression underlies gigaxonin mutation-induced motor deficits in giant axonal neuropathy. | 13 |
| 31503551 | 2019 | Sonic Hedgehog repression underlies gigaxonin mutation-induced motor deficits in giant axonal neuropathy. | 13 |
| 29481904 | 2018 | KLHL16 Degrades Epidermal Keratins. | 7 |
| 29481904 | 2018 | KLHL16 Degrades Epidermal Keratins. | 7 |
| 26492578 | 2016 | Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing. | 23 |
Citation
Dessen P
GAN (gigaxonin)
Atlas Genet Cytogenet Oncol Haematol. 2017-08-01
Online version: http://atlasgeneticsoncology.org/gene/57035/gan-(gigaxonin)
