Interleukin 10-Rezeptor-Untereinheit beta
Das IL10RB-Gen kodiert einen Bestandteil der Interleukin 10-Rezeptors und ist damit in der IL10-vermittelten Signaltransduktion beteiligt. Mutationen führen zu autosomal rezessivem IL10-Rezeptor-Mangel, der zur chronisch entzündlichen Darmerkrankung 25 führt. Weiterhin scheint eine genetische Variante dieses Gens die Persistenz von Hepatitis B-Infektionen zu begünstigen.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Lutfalla G et. al. (1993) A new member of the cytokine receptor gene family maps on chromosome 21 at less than 35 kb from IFNAR.
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2. |
Cheng S et. al. (1993) GART, SON, IFNAR, and CRF2-4 genes cluster on human chromosome 21 and mouse chromosome 16.
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3. |
Gibbs VC et. al. (1997) CRF2-4: isolation of cDNA clones encoding the human and mouse proteins.
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4. |
Kotenko SV et. al. (1997) Identification and functional characterization of a second chain of the interleukin-10 receptor complex.
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5. |
Spencer SD et. al. (1998) The orphan receptor CRF2-4 is an essential subunit of the interleukin 10 receptor.
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6. |
Sheppard P et. al. (2003) IL-28, IL-29 and their class II cytokine receptor IL-28R.
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7. |
Sheikh F et. al. (2004) Cutting edge: IL-26 signals through a novel receptor complex composed of IL-20 receptor 1 and IL-10 receptor 2.
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8. |
Frodsham AJ et. al. (2006) Class II cytokine receptor gene cluster is a major locus for hepatitis B persistence.
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9. |
Glocker EO et. al. (2009) Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.
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10. |
Begue B et. al. (2011) Defective IL10 signaling defining a subgroup of patients with inflammatory bowel disease.
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Update: 14. August 2020