AMBRA1 wt Allele

Preferred Label : AMBRA1 wt Allele;

NCIt synonyms : DCAF3; WD Repeat Domain 94 Gene; Autophagy and Beclin 1 Regulator 1 wt Allele; WDR94; KIAA1736; Autophagy/Beclin-1 Regulator 1 Gene;

NCIt definition : Human AMBRA1 wild-type allele is located in the vicinity of 11p11.2 and is approximately 198 kb in length. This allele, which encodes activating molecule in BECN1-regulated autophagy protein 1, is involved in nervous system development.;

NCI Metathesaurus CUI : CL1662638;

GenBank Accession Number : AB051523;

Details

Origin ID

C179916;

UMLS CUI

C5551100;

Automatic exact mappings (from CISMeF team)
- Activating molecule in beclin 1-regulated autophagy [OMIM gene]
OMIM relation
- Activating molecule in beclin 1-regulated autophagy [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 11p11.2 [NCIt concept]
gene_is_element_in_pathway
- Alzheimer's Disease Pathway KEGG [NCIt concept]
- Amyotrophic Lateral Sclerosis Pathway [NCIt concept]
- Autophagy Regulation Pathway [NCIt concept]
- Huntington's Disease Pathway [NCIt concept]
gene_plays_role_in_process
- Nervous System Development [NCIt concept]
- Neuronal Autophagy [NCIt concept]
- Protein Turnover [NCIt concept]

Keyword's position in hierarchy(ies) :

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