Rpl35 Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
Rpl35 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
RPL35 (Ribosomal Protein L35) is a gene encoding a ribosomal protein that is a component of the 60S large ribosomal subunit. Located at chromosome 9p22.1, RPL35 encodes a 110-amino acid protein that is essential for ribosome function. Mutations in RPL35 are associated with Diamond-Blackfan anemia (DBA), a rare inherited bone marrow failure syndrome.
| Attribute | Value |
|---|---|
| Gene Symbol | RPL35 |
| Full Name | Ribosomal Protein L35 |
| Chromosomal Location | 9p22.1 |
| NCBI Gene ID | 11224 |
| OMIM | 604157 |
| Ensembl ID | ENSG00000197603 |
| UniProt ID | P42766 |
RPL35 is a ribosomal protein component of the 60S large ribosomal subunit. It plays essential roles in:
RPL35 is located in the peptidyl transferase center of the 60S subunit, where it interacts with the tRNA binding sites.
RPL35 mutations have been associated with:
RPL35 contributes to the structure and function of the 60S subunit through:
In DBA, ribosomal protein gene mutations lead to:
RPL35-related DBA features include:
Rpl35 Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
The study of Rpl35 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
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De Keersmaecker K, Sulima SO, Mills GB. Ribosomal mutations and cancer. Nat Rev Cancer. 2023;23(10):651-667. DOI:10.1038/s41568-023-00502-8
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Choesmel V, Bacqueville D, Rouquette J, et al. Impaired ribosome biogenesis in Diamond-Blackfan anemia. Blood. 2007;109(3):1275-1283. DOI:10.1182/blood-2006-07-038372
Clinton C, Gazda HT. Diamond-Blackfan Anemia. GeneReviews. 2023. PMID:20301571