VLDLR wt Allele

Preferred Label : VLDLR wt Allele;

NCIt synonyms : CARMQ1; VLDLRCH; CHRMQ1; Very Low Density Lipoprotein Receptor wt Allele; RP11-320E16.1;

NCIt definition : Human VLDLR wild-type allele is located in the vicinity of 9p24 and is approximately 33 kb in length. This allele, which encodes very low-density lipoprotein receptor protein, is involved in lipoprotein metabolism and the reelin signaling pathway. Mutation of the gene is associated with cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1.;

GenBank Accession Number : NM_003383;

Details

Origin ID

C115014;

UMLS CUI

C3889448;

Automatic exact mappings (from CISMeF team)
- dysequilibrium syndrome [MeSH Supplementary Concept]
- very low density lipoprotein receptor [ORDO Gene]
OMIM relation
- Very low density lipoprotein receptor [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 9p24 [NCIt concept]
gene_is_element_in_pathway
- 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
- Cholesterol Homeostasis [NCIt concept]
- Ligand Binding [NCIt concept]
- Nervous System Development [NCIt concept]
- Receptor Mediated Endocytosis [NCIt concept]
- Receptor Signaling [NCIt concept]

Keyword's position in hierarchy(ies) :

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