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UPF3B - UPF3B regulator of nonsense mediated mRNA decay
- Synonym(s) : HUPF3B, MRX82, RENT3B, UPF3X
- Previous symbols and names : MRX62, UPF3 regulator of nonsense transcripts homolog B (yeast), UPF3B pseudogene 1, UPF3B pseudogene 2, UPF3B pseudogene 3, UPF3B, regulator of nonsense mediated mRNA decay, UPF3BP1, UPF3BP2, UPF3BP3, mental retardation, X-linked 62
- Type : gene with protein product
- Chromosomal location : Xq24
- OMIM: 300298
- HGNC: 20439
- UniProtKB: Q9BZI7
- Genatlas: UPF3B
- GenCC: UPF3B
- Ensembl: ENSG00000125351
- IUPHAR-DB: -
- Reactome: Q9BZI7
- LOVD: UPF3B
Diseases list
- Disease-causing germline mutation(s) in Lujan-Fryns syndrome
ORPHA:776 
- Disease-causing germline mutation(s) in NON RARE IN EUROPE: FG syndrome phenotypic spectrum
ORPHA:323 - Disease-causing germline mutation(s) in X-linked non-syndromic intellectual disability
ORPHA:777
: AssessedAdditional information
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