LRP8 wt Allele

Preferred Label : LRP8 wt Allele;

NCIt synonyms : HSZ75190; Low Density Lipoprotein Receptor-Related Protein 8, Apolipoprotein E Receptor wt Allele; APOER2; MCI1;

NCIt definition : Human LRP8 wild-type allele is located in the vicinity of 1p34 and is approximately 83 kb in length. This allele, which encodes low-density lipoprotein receptor-related protein 8, is involved in signal transduction, neuronal development, ligand endocytosis and lipid metabolism. Mutation of the gene is associated with myocardial infarction type 1.;

GenBank Accession Number : D50678;

Details

Origin ID

C95250;

UMLS CUI

C2987020;

Automatic exact mappings (from CISMeF team)
- Low density lipoprotein receptor-related protein 8 [OMIM gene]
- Myocardial infarction, susceptibility to [OMIM Phenotype]
OMIM relation
- Low density lipoprotein receptor-related protein 8 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Myocardial Infarction [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1p34 [NCIt concept]
gene_is_element_in_pathway
- LIS1 Pathway [NCIt concept]
- Lissencephaly-1 Gene in Neuronal Migration and Development [NCIt concept]
- Reelin Signaling Pathway BioCarta [NCIt concept]
- Reelin Signaling Pathway PID [NCIt concept]
gene_plays_role_in_process
- Endocytotic Process [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Lipid Metabolic Process [NCIt concept]
- Receptor Mediated Endocytosis [NCIt concept]
- Receptor Signaling [NCIt concept]

Keyword's position in hierarchy(ies) :

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