Platelet glycoprotein 1b beta polypeptide
Glycoprotein 1b is a receptor exposed on the surface of platelets where it binds von Willebrand factor. Mutations can cause the autosomal recessive disorder Bernard-Soulier syndrome.
Genetests:
Related Diseases:
References:
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Kunishima S et al. (1997) Missense mutations of the glycoprotein (GP) Ib beta gene impairing the GPIb alpha/beta disulfide linkage in a family with giant platelet disorder.
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Moran N et al. (2000) Surface expression of glycoprotein ib alpha is dependent on glycoprotein ib beta: evidence from a novel mutation causing Bernard-Soulier syndrome.
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3. |
Budarf ML et al. (1995) Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2.
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4. |
Ludlow LB et al. (1996) Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome.
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5. |
Orphanet article
Orphanet ID 122241
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6. |
NCBI article
NCBI 2812
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7. |
OMIM.ORG article
Omim 138720
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8. |
Wikipedia article
Wikipedia EN (GP1BB)
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Update: Aug. 14, 2020