| Gene Symbol | UPF3B |
| Aliases | Up-frameshift Protein 3B |
| Function | UPF3B (Up-frameshift protein 3B) is a key component of the nonsense-mediated mRNA decay (NMD) machinery. |
| Subcellular Localization | signals**: NLS sequences for nuclear-cytoplasmic shuttling ## Normal Function |
| Molecular Weight | 56 kDa |
| Amino Acids | 483 aa |
| GeneCards | UPF3B |
| Human Protein Atlas | UPF3B |
| RRM domain | RNA recognition motif for RNA binding |
| NMD-specific motifs | Domain unique to NMD factors |
| Nuclear localization signals | NLS sequences for nuclear-cytoplasmic shuttling |
| Alzheimer's Disease | NMD dysfunction leads to accumulation of aberrant APP and tau transcripts[@bhattacharya2019] |
| Parkinson's Disease | Impaired NMD affects LRRK2 mRNA quality control |
| Amyotrophic Lateral Sclerosis | TDP-43 pathology intersects with NMD machinery |
| Intellectual disability | Developmental delay and cognitive impairment[@tarpey2007] |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
No AI portrait yet
No comments yet. Be the first to comment!