Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

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
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Proteasom-assoziiertes Autoinflammations-Syndrom 1
PSMB8
Chronische atypische neutrophile Dermatose mit Lipodystrophie und erhöhter Temperatur
PSMA3
PSMB4
PSMB8
PSMB9
PSMG2

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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14.
Update: 8. Mai 2019