Proteasom-Untereinheit beta Typ 4
Das PSMB4-Gen kodiert eine Komponente der Proteasomen, deren Mutationen zu Funktionsstörungen und damit zu autoinflammatorischen Prozessen führen können.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
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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Update: 14. August 2020