Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

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
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Keratosis linearis - Ichthyosis congenita - sklerosierendes Keratoderm
POMP
Proteasom-assoziiertes Autoinflammations-Syndrom 2
POMP

Referenzen:

1.

Brehm A et. al. (2015) Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.

[^]
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.

[^]
3.

Mégarbané A et. al. (2002) An unknown autoinflammatory syndrome associated with short stature and dysmorphic features in a young boy.

[^]
4.

Hoefer MM et al. (2006) Possible tetramerisation of the proteasome maturation factor POMP/proteassemblin/hUmp1 and its subcellular localisation.

[^]
5.

Chondrogianni N et al. (2007) Overexpression of hUMP1/POMP proteasome accessory protein enhances proteasome-mediated antioxidant defence.

[^]
6.

Fricke B et al. (2007) The proteasome maturation protein POMP facilitates major steps of 20S proteasome formation at the endoplasmic reticulum.

[^]
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.

[^]
8.

Poli MC et. al. (2018) Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.

[^]
Update: 8. Mai 2019