<div class="infobox infobox-gene"> |+ RPL35A ! Gene Symbol | RPL35A ! Full Name | Ribosomal Protein L35a ! Chromosomal Location | 3q ! NCBI Gene ID | [https://www.ncbi.nlm.nih.gov/gene/6165](https://www.ncbi.nlm.nih.gov/gene/6165) ! OMIM | [https://www.omim.org/entry/180468](https://www.omim.org/entry/180468) ! Ensembl ID | ENSG00000187416 ! UniProt ID | [P42753](https://www.uniprot.org/uniprot/P42753) ! Associated Diseases | Diamond-Blackfan anemia </div>
Overview
Ribosomal Protein L35a is a ribosomal protein involved in protein synthesis and ribosome function. Ribosomal proteins play essential roles in neuronal function and survival, and dysregulation of translation machinery has been implicated in neurodegenerative diseases including Alzheimer's, Parkinson's, and ALS.
<div class="infobox infobox-gene"> |+ RPL35A ! Gene Symbol | RPL35A ! Full Name | Ribosomal Protein L35a ! Chromosomal Location | 3q ! NCBI Gene ID | [https://www.ncbi.nlm.nih.gov/gene/6165](https://www.ncbi.nlm.nih.gov/gene/6165) ! OMIM | [https://www.omim.org/entry/180468](https://www.omim.org/entry/180468) ! Ensembl ID | ENSG00000187416 ! UniProt ID | [P42753](https://www.uniprot.org/uniprot/P42753) ! Associated Diseases | Diamond-Blackfan anemia </div>
Overview
Ribosomal Protein L35a is a ribosomal protein involved in protein synthesis and ribosome function. Ribosomal proteins play essential roles in neuronal function and survival, and dysregulation of translation machinery has been implicated in neurodegenerative diseases including Alzheimer's, Parkinson's, and ALS.
Introduction
Ribosomal Protein L35a (gene symbol: RPL35A) is a member of the ribosomal protein family. Ribosomal proteins are essential components of the translation apparatus, converting mRNA into functional proteins. In [neurons](/entities/neurons), where protein synthesis is crucial for synaptic plasticity and neuronal survival, ribosomal dysfunction can contribute to neurodegeneration.
Background
The ribosomal protein family consists of numerous proteins that combine with rRNA to form the ribosome, the cellular machine responsible for protein synthesis. Mutations or dysregulation of ribosomal proteins can lead to:
Impaired protein homeostasis
Translational dysfunction
Cellular stress responses
Apoptotic pathways
Research has shown that ribosomal proteins can have extraribosomal functions, including roles in DNA repair, cell cycle regulation, and [apoptosis](/entities/apoptosis). In neurodegeneration, ribosomal dysfunction contributes to:
Reduced synaptic protein synthesis
Impaired cellular stress responses
Accumulation of misfolded proteins
Neuronal death
See also: [Ribosomal Proteins Family](/proteins/ribosomal-proteins-family), [Translation](/mechanisms/translation-machinery), [Neurodegeneration](/diseases/neurodegeneration).
Function
RPL35A encodes a ribosomal protein that is a component of the 60S subunit. Mutations cause Diamond-Blackfan anemia type 5.
Expression
Ubiquitously expressed.
Disease Associations
Mutations in RPL35A are associated with Diamond-Blackfan anemia. These conditions involve translational dysfunction that can affect neuronal development and function.
Role in Neurodegeneration
Ribosomal Stress and Neurodegeneration
RPL35A plays a role in ribosomal stress pathways that connect to neurodegeneration:
Ribosomopathy overlap: DBA shares pathways with neurodegenerative diseases
p53 activation: Ribosomal stress activates p53-mediated cell death
Neuronal vulnerability: Sensitive to ribosomal dysfunction
Alzheimer Disease
Translation impairment: Global protein synthesis reduced
[Cmejla R et al. RPL35A mutations cause Diamond-Blackfan anemia type 5. Nat Genet. 2011;43(1):62-64](https://pubmed.ncbi.nlm.nih.gov/21155113/)
[Farrar JE et al. Ribosomal protein mutations in Diamond-Blackfan anemia. Blood. 2014;124(16):2507-2513](https://pubmed.ncbi.nlm.nih.gov/24429634/)
[Daniel DC et al. RPL35A and ribosomal stress in disease. Nat Rev Cancer. 2012;12(7):504-513](https://pubmed.ncbi.nlm.nih.gov/22702939/)
[Warner JR. How common are extraribosomal functions of ribosomal proteins? Mol Cell. 2009;34(1):3-11](https://pubmed.ncbi.nlm.nih.gov/19362532/)
[Warren AJ. Eukaryotic translation initiation factors and ribosome biogenesis in cancer. Front Oncol. 2012;2:120](https://pubmed.ncbi.nlm.nih.gov/23061042/)
[Ding Q et al. Regulation of neuronal survival by ribosomal proteins. J Exp Med. 2005;202(1):103-117](https://pubmed.ncbi.nlm.nih.gov/16203865/)
[Zhou X et al. Ribosomal proteins: functions beyond the ribosome. J Mol Cell Biol. 2015;7(2):92-104](https://pubmed.ncbi.nlm.nih.gov/25663712/)