Gigaxonin - CISMeF

Preferred Label : Gigaxonin;

NCIt synonyms : Kelch-Like Family Member 16; GAN; Kelch-Like Protein 16;

NCIt definition : Gigaxonin (597 aa, 68 kDa) is encoded by the human GAN gene. This protein plays a role in the modulation of both protein ubiquitination and neurofilament structure.;

Details

Origin ID

C106424;

UMLS CUI

C3810578;

Automatic exact mappings (from CISMeF team)
- Giant axonal neuropathy [ORDO Disease]
- Giant axonal neuropathy [ICD-11 More detail]
- Giant axonal neuropathy 1, autosomal recessive [OMIM Phenotype]
- Gigaxonin [OMIM gene]
- Organization [LOINC System]
- Organization [LOINC component]
- body regions [MeSH Descriptor]
- gigaxonin [ORDO Gene]
- gigaxonin [HGNC gene]
- organization and administration [MeSH Descriptor]
- organizations [MeSH Descriptor]
- {Organ} [LOINC System]
OMIM relation
- Gigaxonin [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
gene_encodes_gene_product
- GAN Gene [NCIt concept]
- Structural Protein Gene [NCIt concept]
gene_product_expressed_in_tissue
- Brain [NCIt concept]
- Heart [NCIt concept]
- Muscle Tissue [NCIt concept]
gene_product_has_associated_anatomy
- Cytoplasm [NCIt concept]
gene_product_has_biochemical_function
- Ubiquitination Regulation Protein [NCIt concept]
gene_product_has_structural_domain_or_motif
- BTB/POZ Domain [NCIt concept]
gene_product_plays_role_in_biological_process
- Cytoskeletal Process [NCIt concept]
- Ubiquitination [NCIt concept]

Keyword's position in hierarchy(ies) :

Main resources

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