Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The PSMB4 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 |
| 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. |
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. |
Gerards WL et al. (1994) Cloning and expression of a human pro(tea)some beta-subunit cDNA: a homologue of the yeast PRE4-subunit essential for peptidylglutamyl-peptide hydrolase activity.
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| 4. |
McCusker D et al. (1997) Genetic relationships of the genes encoding the human proteasome beta subunits and the proteasome PA28 complex.
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| 5. |
Mairinger FD et al. (2014) Gene Expression Analysis of the 26S Proteasome Subunit PSMB4 Reveals Significant Upregulation, Different Expression and Association with Proliferation in Human Pulmonary Neuroendocrine Tumours.
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| 6. |
Zhang X et al. (2017) Proteasome beta-4 subunit contributes to the development of melanoma and is regulated by miR-148b.
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