GAN Gene Summary [Human]
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]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | GAN |
| Official Name | gigaxonin [Source:HGNC Symbol;Acc:HGNC:4137] |
| Ensembl ID | ENSG00000261609 |
| Bio databases IDs | |
| Aliases | gigaxonin, kelch-like family member 16 |
| Synonyms | A330045G18, GAN1, giant axonal neuropathy, GIG, gigaxonin, KLHL16 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human GAN often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Galactose oxidase, central domain
- Kelch motif
- BTB And C-terminal Kelch
- Broad-Complex, Tramtrack and Bric a brac
- BTB_POZ
- BTB/POZ domain
- protein binding
- BACK (BTB and C-terminal Kelch) domain
- Kelch domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- weight loss
- neurodegeneration
- giant axonal neuropathy 1
- hereditary disorder
- motor dysfunction
- cognitive impairment
- astrocytosis
- microgliosis
- seizures
- mental retardation
role in cell
- abnormal morphology
- motility
- accumulation
- transport in
- innervation
- organization
- clearance in
- stability
- enlargement
- transport
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- detergent resistant lipid raft fraction
- filamentous network
- Nucleus
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GAN gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cytoskeleton organization
- protein ubiquitination
Cellular Component
Where in the cell the gene product is active
- cytoskeleton
- cytoplasm
- cytosol
- Cul3-RING ubiquitin ligase complex
Molecular Function
What the gene product does at the molecular level
- protein binding