LDLRAP1 wt Allele

Preferred Label : LDLRAP1 wt Allele;

NCIt synonyms : DKFZP586D0624; FHCB1; FHCB2; Low Density Lipoprotein Receptor Adaptor Protein 1 wt Allele; MGC34705; ARH; ARH1; ARH2; Autosomal Recessive Hypercholesterolemia Gene; LDL Receptor Adaptor Protein Gene; FHCL4;

NCIt definition : Human LDLRAP1 wild-type allele is located in the vicinity of 1p36.11 and is approximately 47 kb in length. This allele, which encodes low density lipoprotein receptor adapter protein 1, is involved in low density lipoprotein receptor (LDLR)-dependent metabolism of cholesterol and low density lipoprotein particles. Mutation of the gene is associated with autosomal recessive hypercholesterolemia.;

GenBank Accession Number : BC029770;

Details

Origin ID

C202912;

OMIM relation
- Low density lipoprotein receptor adaptor protein 1 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1p36.11 [NCIt concept]
gene_is_element_in_pathway
- Endocytosis Pathway [NCIt concept]
gene_plays_role_in_process
- Cholesterol Homeostasis [NCIt concept]
- Endocytotic Process [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Receptor Mediated Endocytosis [NCIt concept]
- Steroid Metabolic Process [NCIt concept]

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