The gene ITGB3 encodes a major component of the glycoprotein IIb-IIIa complex, which binds fibrinogen and controls platelet clutting. Mutations result in autosomal recessive Glanzmann thrombasthenia, and polymorphisms account for alloimmune thrombocytopenia of the newborn.
The gene spans about 60kb. Only one splice variant is known that consists of 15 exons all of them coding.
The originally published sequence differs from our currently used database in codon numbering. In the original publication, translation starts at codon -26. for this reason, published mutations might differ from currently used codone numbers.[Error: Macro 'ref' doesn't exist]
The platelet-specific alloantigen system Pl(A) is based on a missense mutation at codon position 59, which was originally described as L33P. This mutation is the one most frequently implicated in syndromes of immune-mediated platelet destruction, particularly neonatal alloimmune thrombocytopenia and posttransfusion purpura.[Error: Macro 'ref' doesn't exist]
Clinic | Method | Carrier testing |
Turnaround | 5 days | |
Specimen type | genomic DNA |
Clinic | Method | Massive parallel sequencing |
Turnaround | 25 days | |
Specimen type | genomic DNA |
Clinic | Method | Genomic sequencing of the entire coding region |
Turnaround | 25 days | |
Specimen type | genomic DNA |
Clinic | Method | Target mutation analysis |
Turnaround | 20 days | |
Specimen type | genomic DNA |
1. |
Nair S et al. (2005) Mutations in GPIIIa molecule as a cause for Glanzmann thrombasthenia in Indian patients. |
2. |
Kannan M et al. (2008) Carrier detection in Glanzmann thrombasthenia: comparison of flow cytometry and Western blot with respect to DNA mutation. |
3. |
Newman PJ et al. (1991) The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in Israel. |
6. |
Fitzgerald LA et al. (1987) Protein sequence of endothelial glycoprotein IIIa derived from a cDNA clone. Identity with platelet glycoprotein IIIa and similarity to "integrin". |
7. |
Santoso S et al. (1993) The human platelet alloantigens Br(a) and Brb are associated with a single amino acid polymorphism on glycoprotein Ia (integrin subunit alpha 2). |
8. |
None (1994) Nomenclature of human platelet alloantigens: a problem with the HPA system? |
9. |
Rosenberg N et al. (1997) Glanzmann thrombasthenia caused by an 11.2-kb deletion in the glycoprotein IIIa (beta3) is a second mutation in Iraqi Jews that stemmed from a distinct founder. |
10. |
Wang R et al. (1997) Truncation of the cytoplasmic domain of beta3 in a variant form of Glanzmann thrombasthenia abrogates signaling through the integrin alpha(IIb)beta3 complex. |
11. |
Ferrer M et al. (1998) Truncation of glycoprotein (GP) IIIa (616-762) prevents complex formation with GPIIb: novel mutation in exon 11 of GPIIIa associated with thrombasthenia. |
12. |
OMIM.ORG article Omim 173470 |
13. |
Orphanet article Orphanet ID 122704 |
14. |
NCBI article NCBI 3690 |
15. |
Wikipedia article Wikipedia EN (Integrin_beta_3) |