Interleukin 10-Rezeptor-Untereinheit alpha
Das IL10RA-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 28 führt.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Glocker EO et. al. (2009) Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.
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2. |
Begue B et. al. (2011) Defective IL10 signaling defining a subgroup of patients with inflammatory bowel disease.
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3. |
Zigmond E et. al. (2014) Macrophage-restricted interleukin-10 receptor deficiency, but not IL-10 deficiency, causes severe spontaneous colitis.
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4. |
Taniyama T et. al. (1995) The human interleukin-10 receptor gene maps to chromosome 11q23.3.
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5. |
Liu Y et. al. (1994) Expression cloning and characterization of a human IL-10 receptor.
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6. |
Ho AS et. al. (1993) A receptor for interleukin 10 is related to interferon receptors.
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7. |
Tan JC et. al. (1993) Characterization of interleukin-10 receptors on human and mouse cells.
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8. |
Gasche C et. al. (2003) Novel variants of the IL-10 receptor 1 affect inhibition of monocyte TNF-alpha production.
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9. |
Mao H et. al. (2012) Exome sequencing identifies novel compound heterozygous mutations of IL-10 receptor 1 in neonatal-onset Crohn's disease.
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Update: 14. August 2020