LDLR wt Allele

Preferred Label : LDLR wt Allele;

NCIt synonyms : FHC; Familial Hypercholesterolemia Gene; LDLR; FH; LDLCQ2; Low Density Lipoprotein Receptor (Familial Hypercholesterolemia) Gene; Low Density Lipoprotein Receptor wt Allele;

NCIt definition : Human LDLR wild-type allele is located in the vicinity of 19p13.3 and is approximately 44 kb in length. This allele, which encodes low-density lipoprotein receptor protein, is involved in cholesterol biosynthesis. Mutations in the gene result in autosomal dominant disorder, familial hypercholesterolemia.;

GenBank Accession Number : NM_000527;

Détails

Origin ID

C51558;

UMLS CUI

C1706242;

False automatic mappings
- Ferritin heavy chain 1 [OMIM gene]
OMIM relation
- Low density lipoprotein receptor [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_associated_with_disease
- Hypercholesterolemia [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 19: 11061132-11105490 [NCIt concept]
gene_in_chromosomal_location
- 19p13.3 [NCIt concept]
gene_is_element_in_pathway
- Endocytosis Pathway [NCIt concept]
- LDL Pathway [NCIt concept]
- Lipid Synthesis Pathway [NCIt concept]
- Regulation of Cholesterol Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Cholesterol Homeostasis [NCIt concept]
- Ligand Binding [NCIt concept]
- Receptor Mediated Endocytosis [NCIt concept]
- Receptor Signaling [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients