Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Proteasome subunit beta type-4

The PSMB4 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
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.

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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7.
Update: Aug. 14, 2020
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