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Integrin, alpha-2B

The gene ITGA2B 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.

Genetests:

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

Related Diseases:

Thrombasthenia of Glanzmann and Naegeli
ITGA2B
ITGB3
Alloimmune thrombocytopenia
ITGA2B
ITGB3

References:

1.

Nair S et al. (2005) Mutations in GPIIIa molecule as a cause for Glanzmann thrombasthenia in Indian patients.

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2.

Kannan M et al. (2008) Carrier detection in Glanzmann thrombasthenia: comparison of flow cytometry and Western blot with respect to DNA mutation.

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3.

Newman PJ et al. (1991) The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in Israel.

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4.

Kato A et al. (1992) Molecular basis for Glanzmann's thrombasthenia (GT) in a compound heterozygote with glycoprotein IIb gene: a proposal for the classification of GT based on the biosynthetic pathway of glycoprotein IIb-IIIa complex.

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5.

Burk CD et al. (1991) A deletion in the gene for glycoprotein IIb associated with Glanzmann's thrombasthenia.

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6.

Wilcox DA et al. (1994) A single amino acid substitution flanking the fourth calcium binding domain of alpha IIb prevents maturation of the alpha IIb beta 3 integrin complex.

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7.

Schlegel N et al. (1995) The molecular genetic basis of Glanzmann's thrombasthenia in a gypsy population in France: identification of a new mutation on the alpha IIb gene.

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8.

Poncz M et al. (1994) Glanzmann thrombasthenia secondary to a Gly273-->Asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb.

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9.

Basani RB et al. (1996) Glanzmann thrombasthenia due to a two amino acid deletion in the fourth calcium-binding domain of alpha IIb: demonstration of the importance of calcium-binding domains in the conformation of alpha IIb beta 3.

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10.

Grimaldi CM et al. (1998) Glycoprotein IIb Leu214Pro mutation produces glanzmann thrombasthenia with both quantitative and qualitative abnormalities in GPIIb/IIIa.

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11.

Ruan J et al. (1998) Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann's thrombasthenia.

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12.

Orphanet article

Orphanet ID 122690 external link
13.

NCBI article

NCBI 3674 external link
14.

OMIM.ORG article

Omim 607759 external link
15.

Wikipedia article

Wikipedia EN (Integrin_alpha_2b) external link
Update: Aug. 14, 2020
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