Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Proteasome maturation protein

The protein encoded by the POMP gene plays an important role in proteasome maturation. Mutations cause autosomal dominant PRAAS2 syndrome.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
POMP
Proteasome-associated autoinflammatory syndrome 2
POMP

References:

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: Aug. 14, 2020
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