Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The PSMB9 gene encodes a componet of proteasomes. Mutations cause a dysfunctional proteasome which results in autoinflammatory processes.
| 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 |
Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome
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PSMA3
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PSMB4
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PSMB8
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PSMB9
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PSMG2
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| 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. |
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