SORL1 wt Allele

Preferred Label : SORL1 wt Allele;

NCIt synonyms : SorLA-1; LRP9; Chromosome 11 Open Reading Frame 32 Gene; C11orf32; Sortilin-Related Receptor, L(DLR Class) A Repeats-Containing Gene; gp250; LR11; Sortilin-Related Receptor, L(DLR Class) A Repeats Containing wt Allele; SORLA;

NCIt definition : Human SORL1 wild-type allele is located within 11q23.2-q24.2 and is approximately 182 kb in length. This allele, which encodes sortilin-related receptor protein, plays a role in both intracellular protein sorting and endocytosis of lipoproteins and enzymes. Mutation of the gene may be associated with Alzheimer disease.;

NCI Metathesaurus CUI : CL505018;

GenBank Accession Number : Y08110;

Details

Origin ID

C126510;

UMLS CUI

C4284288;

Automatic exact mappings (from CISMeF team)
- LR11 (body structure) [SNOMED CT concept]
- Low density lipoprotein receptor-related protein 10 [OMIM gene]
- Sortilin-related receptor [OMIM gene]
- sortilin related receptor 1 [ORDO Gene]
OMIM relation
- Sortilin-related receptor [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Ligand Binding [NCIt concept]
- Protein Turnover [NCIt concept]
- Receptor Mediated Endocytosis [NCIt concept]
- Receptor Signaling [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]

Keyword's position in hierarchy(ies) :

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