Gene
gan
- ID
- ZDB-GENE-121221-1
- Name
- gigaxonin
- Symbol
- gan Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Acts upstream of or within several processes, including regulation of neuromuscular junction development; regulation of somitogenesis; and spinal cord motor neuron cell fate specification. Predicted to be part of Cul3-RING ubiquitin ligase complex. Predicted to be active in cytoplasm. Is expressed in eye; heart; muscle; and notochord. Human ortholog(s) of this gene implicated in giant axonal neuropathy 1. Orthologous to human GAN (gigaxonin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Arribat et al., 2019
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 6 figures from Arribat et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| giant axonal neuropathy 1 | Alliance | Giant axonal neuropathy-1 | 256850 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | BTB/Kelch-associated | BTB-kelch protein | BTB/POZ domain | Gigaxonin, BACK domain | Gigaxonin, BTB/POZ domain | Kelch repeat type 1 | Kelch-type beta propeller | SKP1/BTB/POZ domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A2I4KBP1 | InterPro | 609 |
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- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Cui, Y., Yu, X., Bao, J., Ping, X., Shi, S., Huang, Y., Yin, Q., Yang, H., Chen, R., Yao, K., Chen, X., Shentu, X. (2024) Lens autophagy protein ATG16L1: a potential target for cataract treatment. Theranostics. 14:398439963984-3996
- Lescouzères, L., Hassen-Khodja, C., Baudot, A., Bordignon, B., Bomont, P. (2023) A multilevel screening pipeline in zebrafish identifies therapeutic drugs for GAN. EMBO Molecular Medicine. 15(7):e16267
- Arribat, Y., Mysiak, K.S., Lescouzères, L., Boizot, A., Ruiz, M., Rossel, M., Bomont, P. (2019) Sonic Hedgehog repression underlies gigaxonin mutation-induced motor deficits in giant axonal neuropathy. The Journal of Clinical Investigation. 129(12):5312-5326
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