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GP1BB - glycoprotein Ib platelet subunit beta
- Synonym(s) : CD42c, GPIbbeta, platelet glycoprotein Ib beta chain
- Previous symbols and names : glycoprotein Ib (platelet), beta polypeptide
- Type : gene with protein product
- Chromosomal location : 22q11.21
- OMIM: 138720
- HGNC: 4440
- UniProtKB: P13224
- Genatlas: GP1BB
- GenCC: GP1BB
- Ensembl: ENSG00000203618
- IUPHAR-DB: -
- Reactome: P13224
- LOVD: GP1BB
Diseases list
- Disease-causing germline mutation(s) in Autosomal dominant macrothrombocytopenia
ORPHA:140957 
- Disease-causing germline mutation(s) in Bernard-Soulier syndrome
ORPHA:274 - Role in the phenotype of 22q11.2 deletion syndrome
ORPHA:567 - Candidate gene tested in Fetal and neonatal alloimmune thrombocytopenia
ORPHA:853
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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