Proteasome Reifungsprotein
Das POMP-Gen kodiert ein Protein welches für die Ausreifung der Proteasomen verantwortlich ist Mutationen führen zum autosomal dominanten PRAAS2-Syndrom.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
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. |
Witt E et al. (2000) Characterisation of the newly identified human Ump1 homologue POMP and analysis of LMP7(beta 5i) incorporation into 20 S proteasomes.
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3. |
Mégarbané A et. al. (2002) An unknown autoinflammatory syndrome associated with short stature and dysmorphic features in a young boy.
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4. |
Hoefer MM et al. (2006) Possible tetramerisation of the proteasome maturation factor POMP/proteassemblin/hUmp1 and its subcellular localisation.
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5. |
Chondrogianni N et al. (2007) Overexpression of hUMP1/POMP proteasome accessory protein enhances proteasome-mediated antioxidant defence.
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6. |
Fricke B et al. (2007) The proteasome maturation protein POMP facilitates major steps of 20S proteasome formation at the endoplasmic reticulum.
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7. |
Dahlqvist J et. al. (2010) A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis.
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8. |
Poli MC et. al. (2018) Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.
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Update: 14. August 2020