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

Proteasome subunit alpha type-3

The PSMA3 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
PSMA3
Proteasome-associated autoinflammatory syndrome 1
PSMB8
Proteasome-associated autoinflammatory syndrome 2
POMP
Proteasome-associated autoinflammatory syndrome 3
PSMB4
PSMB9
Proteasome-associated autoinflammatory syndrome 4
PSMG2
Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome
PSMA3
PSMB4
PSMB8
PSMB9
PSMG2

References:

1.

Akioka H et al. (1995) Isolation and characterization of the HC8 subunit gene of the human proteasome.

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2.

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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3.

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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4.
Update: Aug. 14, 2020
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