gene 1,310 words KG: RPS27
Contents

RPS27 Gene

🧬 Gene Info
Gene SymbolRPS27
Functionis an important component in the neurobiology of neurodegenerative diseases.
Amino Acids84 aa
Ensembl IDENSG00000177951
GeneCardsRPS27
Human Protein AtlasRPS27
40S subunit assemblyCritical for proper ribosome biogenesis
mRNA bindingFacilitates mRNA binding to the small ribosomal subunit
Translation initiationPart of the eIF2/EIF2B complex that initiates translation
p53 activationThe RPS27-MDM2-p53 axis is critical for tumor suppression and cellular stress response
Diamond-Blackfan Anemia (DBA)RPS19 and RPS24 mutations cause ribosomal stress
5q- syndromeDeletion of ribosomal protein genes causes bone marrow failure
Neurodevelopmental disordersMutations in ribosomal proteins cause intellectual disability
Ribosomal RNA (rRNA) processing defectsObserved in sporadic ALS
Ribosomal protein alterationsChanges in RPS6 and RPS10 in ALS motor neurons
Associated Diseasesneurodegeneration
InteractionsRPL38, RPS28, RPL35, TARDBP, RPS10, RPS16
KG Connections7 knowledge graph edges
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

Knowledge Graph