EPG5 wt Allele

Preferred Label : EPG5 wt Allele;

NCIt synonyms : Ectopic P-Granules Autophagy Protein 5 Homolog Gene; Ectopic P-Granules 5 Autophagy Tethering Factor wt Allele; VICIS; Ectopic P-Granules Autophagy Protein 5, C. elegans, Homolog of Gene; KIAA1632; HEEW1; Ectopic P-Granules Autophagy Protein 5 Homolog (C. elegans) Gene; Ectopic P Granules Protein 5 Homolog Gene;

NCIt definition : Human EPG5 wild-type allele is located within 18q12.3-q21.1 and is approximately 167 kb in length. This allele, which encodes ectopic P granules protein 5 homolog protein, is involved in TLR9-mediated immune responses and autophagy. Mutation of the gene is associated with Vici syndrome.;

NCI Metathesaurus CUI : CL1915479;

GenBank Accession Number : AK023817;

Details

Origin ID

C201100;

UMLS CUI

C5849002;

OMIM relation
- Ectopic p-granules autophagy protein 5 homolog [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Autophagy [NCIt concept]
- Immune Response Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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