GP1BB wt Allele

**Semantic type:** Gene or Genome

**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.

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