Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The PSMG2 gene encodes a chaperone that is involved in proteasome assembly. Mutations cause PRAAS4 and CANDLE syndromes.
| 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 |
Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome
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PSMA3
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PSMB4
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PSMB8
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PSMB9
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PSMG2
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| 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.
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| 3. |
Hirano Y et. al. (2005) A heterodimeric complex that promotes the assembly of mammalian 20S proteasomes.
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| 4. |
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