LRP6 wt Allele

Preferred Label : LRP6 wt Allele;

NCIt synonyms : Low Density Lipoprotein Receptor-Related Protein 6 Gene; FLJ90421; FLJ90062; ADCAD2; LDL Receptor Related Protein 6 wt Allele;

NCIt definition : Human LRP6 wild-type allele is located in the vicinity of 12p13.2 and is approximately 151 kb in length. This allele, which encodes low-density lipoprotein receptor-related protein 6, is involved in the mediation of ligand endocytosis and cell communication. Mutation of the gene is associated with autosomal dominant coronary artery disease type 2.;

GenBank Accession Number : AF074264;

Détails

Origin ID

C95413;

UMLS CUI

C2987132;

OMIM relation
- Low density lipoprotein receptor-related protein 6 [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_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 12p13.2 [NCIt concept]
gene_is_element_in_pathway
- Beta-Catenin Accumulation Pathway [NCIt concept]
- Canonical Wnt Signaling Pathway [NCIt concept]
- Pitx2 Transcription Regulation Pathway [NCIt concept]
- Presenilin Action in Notch and Wnt Signaling Pathways [NCIt concept]
- Segmentation Clock Pathway [NCIt concept]
- WNT Signaling Pathway BioCarta [NCIt concept]
- Wnt Signaling Pathway KEGG [NCIt concept]
- Wnt Signaling Pathway PID [NCIt concept]
- Wnt/LRP6 Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Developmental Process [NCIt concept]
- Intercellular Communication Process [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