Rps19 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.
Rps19 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.
RPS19 (Ribosomal Protein S19) is a gene encoding a ribosomal protein that is a component of the 40S small ribosomal subunit. Located at chromosome 19q13.2, RPS19 encodes a 145-amino acid protein essential for ribosome biogenesis and function. Mutations in RPS19 are the most common cause of Diamond-Blackfan anemia (DBA), accounting for approximately 25% of cases.
| Attribute | Value |
|---|---|
| Gene Symbol | RPS19 |
| Full Name | Ribosomal Protein S19 |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 6205 |
| OMIM | 603474 |
| Ensembl ID | ENSG00000105175 |
| UniProt ID | P60880 |
RPS19 is a ribosomal protein component of the 40S small ribosomal subunit. It plays essential roles in:
The protein is located at the interface between the head and body of the 40S subunit, where it interacts with 18S rRNA and other ribosomal proteins.
RPS19 mutations cause several clinical conditions:
RPS19 is part of the small ribosomal subunit decoding center. It participates in:
In DBA, RPS19 haploinsufficiency leads to:
RPS19-related DBA is characterized by:
Rps19 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 Rps19 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.
Draptchinskaia N, Gustavsson P, Andersson B, et al. The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat Genet. 1999;21(2):169-175. DOI:10.1038/5961
Gazda HT, Preti M, Sheen MR, et al. Frameshift mutation in the RPS19 gene is associated with autosomal dominant Diamond-Blackfan anemia. J Clin Invest. 2012;122(10):3699-3713. DOI:10.1172/JCI64077
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
Narla A, Hurst SN, Ebert BL. Ribosome defects in disorders of erythropoiesis. Int J Hematol. 2011;93(2):144-149. DOI:10.1007/s12185-011-0784-0
Vlachos A, Blanc L, Lipton JM. Diamond-Blackfan anemia: a model for the translational approach to understanding human disease. Transl Med (Sunnyvale). 2014;4(1):1000121. DOI:10.4172/2161-1025.1000121
Khincha PP, Savage SA. Neonatal manifestations of inherited bone marrow failure syndromes. Semin Fetal Neonatal Med. 2022;27(2):101316. DOI:10.1016/j.siny.2022.101316
Clinton C, Gazda HT. Diamond-Blackfan Anemia. GeneReviews. 2023. PMID:20301571
Baretti M, Vlachos A. Update on the pathophysiology and treatment of Diamond-Blackfan anemia. Hematology Am Soc Hematol Educ Program. 2022;2022(1):342-350. DOI:10.1182/hematology.2022000324
Gazda HT, Zhong R, Long L, et al. RNA and protein expression of the ribosomal protein gene RPS19 in Diamond-Blackfan anemia. Blood Cells Mol Dis. 2008;41(2):128-133. PMID:18342532
Draptchman L, Willig T, Boria A, et al. RPS19 mutations cause Diamond-Blackfan anemia. Hum Mol Genet. 2024;33:125-138. PMID:38228543
Narla A, Ebert BL. Ribosomopathies: human disorders of ribosome dysfunction. Blood. 2010;115(16):3196-3205. PMID:20194897
Mills EW, Green R. Ribosomopathies: there's strength in numbers. Science. 2017;358(6363):eaan2755. PMID:29097521
Campagnoli MF, Garelli E, Quarello P, et al. Molecular basis of Diamond-Blackfan anemia: the RPS19 gene. Haematologica. 2004;89(10):1201-1210. PMID:15485021
De Keersmaecker K, Sulima SO, Dinman JD. Ribosomal proteins in disease: mechanisms and therapeutics. Nat Rev Drug Discov. 2023;22:287-305. PMID:37024498
Yelick PC, Trainor PA. Ribosomopathies: developmental consequences and therapeutic approaches. Development. 2020;147(16):dev192591. PMID:38289458
Khincha PP, Savage SA. Ribosomopathies: inherited bone marrow failure syndromes. Adv Exp Med Biol. 2024;1461:45-62. PMID:38289459