Gerinnungsfaktor XIII B
Der Gerinnungsfaktor XIII ist ein Heterotetramer, welches aus 2 A- und 2 B-Untereinheiten besteht. Das F13A1-Gen kodiert die A-Untereinheit. Die Funktion des Faktors XIII besteht in der Stabilisierung von Fibringerinseln. Mutationen führen zum autosomal rezessiven Faktor XIII-Mangel mit Gerinnungs- und Wundheilungsstörungen.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Kera Y et al. (1981) Genetic polymorphism of the B subunit of human coagulation factor XIII: another classification.
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2. |
Izumi T et al. (1996) Type I factor XIII deficiency is caused by a genetic defect of its b subunit: insertion of triplet AAC in exon III leads to premature termination in the second Sushi domain.
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3. |
Nonaka M et al. (1993) Molecular cloning of the b subunit of mouse coagulation factor XIII and assignment of the gene to chromosome 1: close evolutionary relationship to complement factor H.
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4. |
None (1980) Genetic polymorphism of the B subunit of human coagulation factor XIII.
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5. |
Nakamura S et al. (1982) Genetic polymorphism of coagulation factor XIIIB subunit in Japanese.
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6. |
None (1984) Genetic heterogeneity of the B subunit of coagulation factor XIII: resolution of type 2.
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7. |
Eiberg H et al. (1985) Cystic fibrosis; hint of linkage with F13B.
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8. |
Bender K et al. (1987) Coagulation factor XIII: genetic linkage studies with F13B.
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9. |
Kamboh MI et al. (1986) Genetic studies of low abundance human plasma proteins. II. Population genetics of coagulation factor XIIIB.
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10. |
Rodriguez de Cordoba S et al. (1988) Coagulation factor XIII B subunit is encoded by a gene linked to the regulator of complement activation (RCA) gene cluster in man.
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11. |
Ichinose A et al. (1986) Amino acid sequence of the b subunit of human factor XIII, a protein composed of ten repetitive segments.
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12. |
Takahashi N et al. (1986) Primary structure of blood coagulation factor XIIIa (fibrinoligase, transglutaminase) from human placenta.
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13. |
Webb GC et al. (1989) Localization of the coagulation factor XIII B subunit gene (F13B) to chromosome bands 1q31-32.1 and restriction fragment length polymorphism at the locus.
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14. |
Grundmann U et al. (1990) Complete cDNA sequence encoding the B subunit of human factor XIII.
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15. |
Komanasin N et al. (2005) A novel polymorphism in the factor XIII B-subunit (His95Arg): relationship to subunit dissociation and venous thrombosis.
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16. |
Reiner AP et al. (2003) Genetic variants of coagulation factor XIII, postmenopausal estrogen therapy, and risk of nonfatal myocardial infarction.
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17. |
Hashiguchi T et al. (1993) Two genetic defects in a patient with complete deficiency of the b-subunit for coagulation factor XIII.
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18. |
Saito M et al. (1990) A familial factor XIII subunit B deficiency.
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19. |
Koseki S et al. (2001) Truncated mutant B subunit for factor XIII causes its deficiency due to impaired intracellular transportation.
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20. |
Hing S et al. (1988) Assignment of complement components C4 binding protein (C4BP) and factor H (FH) to human chromosome 1q, using cDNA probes.
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21. |
NCBI article
NCBI 2165
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22. |
OMIM.ORG article
Omim 134580
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23. |
Orphanet article
Orphanet ID 121668
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24. |
Wikipedia Artikel
Wikipedia DE (Untereinheit_B_des_Fibrinstabilisierenden_Faktors)
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Update: 14. August 2020