GPC3 wt Allele

Preferred Label : GPC3 wt Allele;

NCIt synonyms : SGBS; SGBS1; Glypican Proteoglycan 3 Gene; Glypican 3 wt Allele; SDYS; OCI-5; SGB; MXR7; DGSX; GTR2-2;

NCIt definition : Human GPC3 wild-type allele is located in the vicinity of Xq26.1 and is approximately 622 kb in length. This allele, which encodes glypican-3 protein, plays a role in the modulation of cellular interactions with extracellular proteoglycans. Mutation of the gene is associated with Simpson-Golabi-Behmel syndrome and Wilms tumor.;

GenBank Accession Number : L47125;

Details

Origin ID

C88174;

UMLS CUI

C2981725;

OMIM relation
- Glypican 3 [OMIM gene]
See also inter- (CISMeF)
- Simpson-Golabi-Behmel syndrome [MeSH Supplementary Concept]
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
- Wilms Tumor [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Xq26.1 [NCIt concept]
gene_is_element_in_pathway
- Glypican 3 Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Ligand Binding [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients