Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Proteasome subunit beta type-9

The PSMB9 gene encodes a componet of proteasomes. Mutations cause a dysfunctional proteasome which results in autoinflammatory processes.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Proteasome-associated autoinflammatory syndrome 3
PSMB4
PSMB9
Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome
PSMA3
PSMB4
PSMB8
PSMB9
PSMG2

References:

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: Aug. 14, 2020
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