GP1BB wt Allele

Preferred Label : GP1BB wt Allele;

NCIt synonyms : Platelet Glycoprotein Ib, Beta Polypeptide Gene; GPIbbeta; BDPLT1; GP Ib, Beta Subunit Gene; Glycoprotein Ib, Platelet, Beta Polypeptide Gene; GPIBB; Nuclear Localization Signal Deleted In Velocardiofacial Syndrome Gene; CD42C; Glycoprotein Ib Platelet Beta Subunit wt Allele; Glycoprotein Ib (Platelet), Beta Polypeptide Gene;

NCIt definition : Human GP1BB wild-type allele is located in the vicinity of 22q11.21 and is approximately 2 kb in length. This allele, which encodes platelet glycoprotein Ib beta chain protein, plays a role in platelet aggregation. Mutation of the gene is associated with Bernard-Soulier syndrome type B.;

NCI Metathesaurus CUI : CL505031;

GenBank Accession Number : NM_000407;

Details

Origin ID

C126550;

UMLS CUI

C4284180;

Automatic exact mappings (from CISMeF team)
- Bernard-soulier syndrome [OMIM Phenotype]
- glycoprotein Ib platelet subunit beta [ORDO Gene]
- platelet glycoprotein GPIb-IX complex [MeSH Descriptor]
- platelet membrane glycoprotein IIb [MeSH Descriptor]
OMIM relation
- Glycoprotein ib, platelet, beta polypeptide [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 22q11.21 [NCIt concept]
gene_is_element_in_pathway
- ECM-Receptor Interaction Signaling Pathway [NCIt concept]
- Hematopoietic Cell Lineage Pathway [NCIt concept]
gene_plays_role_in_process
- Ligand Binding [NCIt concept]
- Platelet Activation [NCIt concept]
- Positive Regulation of Platelet Aggregation Process [NCIt concept]

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