Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Proteasom-Untereinheit beta Typ 9

Das PSMB9-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 3
PSMB4
PSMB9
Chronische atypische neutrophile Dermatose mit Lipodystrophie und erhöhter Temperatur
PSMA3
PSMB4
PSMB8
PSMB9
PSMG2

Referenzen:

1.

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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2.

Martinez CK et al. (1991) Homology of proteasome subunits to a major histocompatibility complex-linked LMP gene.

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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.

Kelly A et al. (1991) Second proteasome-related gene in the human MHC class II region.

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5.

Van Kaer L et al. (1994) Altered peptidase and viral-specific T cell response in LMP2 mutant mice.

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6.

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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7.

Akiyama K et al. (1994) cDNA cloning and interferon gamma down-regulation of proteasomal subunits X and Y.

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8.

Zhou P et al. (1993) Genomic organization and tissue expression of mouse proteasome gene Lmp-2.

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9.

Driscoll J et al. (1993) MHC-linked LMP gene products specifically alter peptidase activities of the proteasome.

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10.

Gaczynska M et al. (1993) Gamma-interferon and expression of MHC genes regulate peptide hydrolysis by proteasomes.

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11.

None (2001) Meiotic recombination hot spots and cold spots.

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12.

Guillon H et al. (2002) An initiation site for meiotic crossing-over and gene conversion in the mouse.

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13.
Update: 9. Mai 2019