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

Proteasome assembly chaperone 2

The PSMG2 gene encodes a chaperone that is involved in proteasome assembly. Mutations cause PRAAS4 and CANDLE syndromes.

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:

Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome
PSMA3
PSMB4
PSMB8
PSMB9
PSMG2
Proteasome-associated autoinflammatory syndrome 4
PSMG2

References:

1.

Wang ZX et. al. (2001) Expression of liver cancer associated gene HCCA3.

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2.

Bahar R et. al. (2002) Growth retardation, polyploidy, and multinucleation induced by Clast3, a novel cell cycle-regulated protein.

external link
3.

Hirano Y et. al. (2005) A heterodimeric complex that promotes the assembly of mammalian 20S proteasomes.

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4.
Update: Aug. 14, 2020
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