Hyaluronan-binding protein 2
The protein product of the HABP2 gene is a protease, which activates pro-urokinase. A common polymorphism is associated with susceptibility to carotid stenosis and venous thromboembolism. Also mutations are supposed to cause non-medullary thyroid cancer 5.
Gene Structure
The HABP2 gene spans about 36,5kb on chromosome 10 (10q25-q26). Three splice variants are known. The largest consists of 13 exons.
Genetests:
Related Diseases:
References:
1. |
Kannemeier C et al. (2001) Factor VII and single-chain plasminogen activator-activating protease: activation and autoactivation of the proenzyme.
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2. |
None (2003) Factor VII-activating protease: coagulation, fibrinolysis, and atherothrombosis?
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3. |
Willeit J et al. (2003) Marburg I polymorphism of factor VII--activating protease: a prominent risk predictor of carotid stenosis.
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4. |
Hoppe B et al. (2005) Marburg I polymorphism of factor VII-activating protease is associated with idiopathic venous thromboembolism.
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5. |
Nakazawa F et al. (2005) Extracellular RNA is a natural cofactor for the (auto-)activation of Factor VII-activating protease (FSAP).
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6. |
van Minkelen R et al. (2005) The Marburg I polymorphism of factor VII-activating protease is not associated with venous thrombosis.
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7. |
Altincicek B et al. (2006) A positively charged cluster in the epidermal growth factor-like domain of Factor VII-activating protease (FSAP) is essential for polyanion binding.
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8. |
Franchi F et al. (2006) Marburg I polymorphism of factor VII-activating protease and risk of venous thromboembolism.
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9. |
Orphanet article
Orphanet ID 437465
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10. |
NCBI article
NCBI 3026
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11. |
OMIM.ORG article
Omim 603924
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12. |
Wikipedia article
Wikipedia EN (HABP2)
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Update: Aug. 14, 2020