Hochaffiner Immunglobulin-epsilon-Rezeptor Untereinheit beta
Das MS4A2-Gen kodiert einen Rezeptor für das Immunglobulin E und ist damit an der Regulation von allergischen Reaktionen beteiligt. Mutationen sind für autosomal dominante Atopie-Neigung verantwortlich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Hizawa N et al. (1995) Association between high serum total IgE levels and D11S97 on chromosome 11q13 in Japanese subjects.
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2. |
Sandford AJ et al. (1993) Localisation of atopy and beta subunit of high-affinity IgE receptor (Fc epsilon RI) on chromosome 11q.
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3. |
Küster H et al. (1992) The gene and cDNA for the human high affinity immunoglobulin E receptor beta chain and expression of the complete human receptor.
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4. |
Hupp K et al. (1989) Gene mapping of the three subunits of the high affinity FcR for IgE to mouse chromosomes 1 and 19.
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5. |
Shirakawa T et al. (1994) Association between atopy and variants of the beta subunit of the high-affinity immunoglobulin E receptor.
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6. |
Szepetowski P et al. (1994) FCER1B, a candidate gene for atopy, is located in 11q13 between CD20 and TCN1.
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7. |
Hill MR et al. (1996) A new variant of the beta subunit of the high-affinity receptor for immunoglobulin E (Fc epsilon RI-beta E237G): associations with measures of atopy and bronchial hyper-responsiveness.
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8. |
Shirakawa T et al. (1996) Association between atopic asthma and a coding variant of Fc epsilon RI beta in a Japanese population.
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9. |
Fölster-Holst R et al. (1998) Linkage between atopy and the IgE high-affinity receptor gene at 11q13 in atopic dermatitis families.
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10. |
Nagata H et al. (2001) Association between nasal allergy and a coding variant of the Fc epsilon RI beta gene Glu237Gly in a Japanese population.
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11. |
Donnadieu E et al. (2003) Competing functions encoded in the allergy-associated F(c)epsilonRIbeta gene.
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12. |
Traherne JA et al. (2003) LD mapping of maternally and non-maternally derived alleles and atopy in FcepsilonRI-beta.
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13. |
Cruse G et al. (2010) A novel FcεRIβ-chain truncation regulates human mast cell proliferation and survival.
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14. |
Cruse G et al. (2013) A truncated splice-variant of the FcεRIβ receptor subunit is critical for microtubule formation and degranulation in mast cells.
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15. |
NCBI article
NCBI 2206
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16. |
OMIM.ORG article
Omim 147138
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Update: 14. August 2020