Rps25 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.
Rps25 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.
RPS25 (Ribosomal Protein S25) is a gene encoding a ribosomal protein that is a component of the 40S small ribosomal subunit. Located at chromosome 17q25.2, RPS25 encodes a 125-amino acid protein that is highly conserved across eukaryotes. RPS25 is one of the ribosomal proteins that has been implicated in Diamond-Blackfan anemia and other ribosomopathies.
| Attribute | Value |
|---|---|
| Gene Symbol | RPS25 |
| Full Name | Ribosomal Protein S25 |
| Chromosomal Location | 17q25.2 |
| NCBI Gene ID | 6197 |
| OMIM | 604674 |
| Ensembl ID | ENSG00000131378 |
| UniProt ID | P62857 |
RPS25 is a ribosomal protein component of the 40S small ribosomal subunit. It plays essential roles in:
RPS25 is located in the head region of the 40S subunit, near the mRNA entry channel.
RPS25 mutations have been associated with:
RPS25 contributes to the structure and function of the 40S subunit through:
In DBA, ribosomal protein gene mutations lead to:
RPS25-related DBA features include:
Rps25 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 Rps25 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.
Gazda HT, Sheen MR, Vlachos A, et al. Ribosomal protein L5 and L11 mutations are associated with cleft palate and progressive phenotypes in Diamond-Blackfan anemia. Am J Hum Genet. 2008;83(6):769-780. DOI:10.1016/j.ajhg.2008.11.006
Doherty L, Sheen MR, Vlachos A, et al. Ribosomal protein genes RPS10 and RPS26 are frequently mutated in Diamond-Blackfan anemia. Am J Hum Genet. 2010;86(2):222-228. DOI:10.1016/j.ajhg.2009.12.015
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
Narla A, Ebert BL. Ribosomal mutations and the pathogenesis of Diamond-Blackfan anemia. Blood. 2008;111(10):4955-4961. DOI:10.1182/blood-2008-02-140012
Vlachos A, Blanc L, Lipton JM. Diamond-Blackfan anemia: a model for the translational approach. Transl Med (Sunnyvale). 2014;4(1):1000121. DOI:10.4172/2161-1025.1000121
Mills GB, Zhang Y, De Keersmaecker K. Ribosomal proteins as tumor suppressors. Oncotarget. 2016;7(44):71342-71343. DOI:10.18632/oncotarget.11518
Wang W, Nag S, Zhang X, et al. Ribosomal proteins: functions beyond the ribosome. J Mol Cell Biol. 2015;7(2):125-137. DOI:10.1093/jmcb/mjv014
Clinton C, Gazda HT. Diamond-Blackfan Anemia. GeneReviews. 2023. PMID:20301571