Heparin-Kofaktor 2
Das SERPIND1-Gen kodiert ein Serpin, welches in der Regulation der Blutgerinnung als Heparin-Kofaktor fungiert. Mutationen verursachen eine Thrombophilie aufgrund des Heparin-Kofaktor 2-Mangels.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Herzog R et al. (1991) Complete nucleotide sequence of the gene for human heparin cofactor II and mapping to chromosomal band 22q11.
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2. |
Andersson TR et al. (1987) Low heparin cofactor II associated with abnormal crossed immunoelectrophoresis pattern in two Norwegian families.
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3. |
Blinder MA et al. (1989) Heparin cofactor IIOslo. Mutation of Arg-189 to His decreases the affinity for dermatan sulfate.
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4. |
Kondo S et al. (1996) Molecular and cellular basis for type I heparin cofactor II deficiency (heparin cofactor II Awaji).
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5. |
Kanagawa Y et al. (2001) Molecular mechanism of type I congenital heparin cofactor (HC) II deficiency caused by a missense mutation at reactive P2 site: HC II Tokushima.
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6. |
Blinder MA et al. (1988) Heparin cofactor II: cDNA sequence, chromosome localization, restriction fragment length polymorphism, and expression in Escherichia coli.
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7. |
None (1986) A new member of the plasma protease inhibitor gene family.
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8. |
Bernardi F et al. (1996) A heparin cofactor II mutation (HCII Rimini) combined with factor V Leiden or type I protein C deficiency in two unrelated thrombophilic subjects.
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9. |
Aihara K et al. (2004) Heparin cofactor II is a novel protective factor against carotid atherosclerosis in elderly individuals.
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10. |
Vicente CP et al. (2007) Accelerated atherogenesis and neointima formation in heparin cofactor II deficient mice.
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11. |
NCBI article
NCBI 3053
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12. |
OMIM.ORG article
Omim 142360
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Update: 14. August 2020