Proteasom-Untereinheit beta Typ 8
Das PSMB8-Gen kodiert eine Komponente der Proteasomen, deren Mutationen zu Funktionsstörungen und damit zu autoinflammatorischen Prozessen führen können.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Liu Y et. al. (2012) Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity.
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2. |
Brehm A et. al. (2015) Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.
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3. |
Glynne R et al. (1991) A proteasome-related gene between the two ABC transporter loci in the class II region of the human MHC.
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4. |
Deng GY et al. (1995) Association of LMP2 and LMP7 genes within the major histocompatibility complex with insulin-dependent diabetes mellitus: population and family studies.
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5. |
Fehling HJ et al. (1994) MHC class I expression in mice lacking the proteasome subunit LMP-7.
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6. |
Tanaka M et. al. (1993) Hereditary lipo-muscular atrophy with joint contracture, skin eruptions and hyper-gamma-globulinemia: a new syndrome.
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7. |
Witt E et al. (2000) Characterisation of the newly identified human Ump1 homologue POMP and analysis of LMP7(beta 5i) incorporation into 20 S proteasomes.
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8. |
Muchamuel T et al. (2009) A selective inhibitor of the immunoproteasome subunit LMP7 blocks cytokine production and attenuates progression of experimental arthritis.
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9. |
Torrelo A et. al. (2010) Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome.
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10. |
Garg A et. al. (2010) An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy.
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11. |
Agarwal AK et. al. (2010) PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome.
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12. |
Arima K et. al. (2011) Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome.
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13. |
Kitamura A et. al. (2011) A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans.
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Update: 14. August 2020