Ddx17 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.
{{Infobox gene}}
{{Infobox .infobox .infobox-gene|
| gene_name = DDX17
| full_name = DEAD-Box Helicase 17 (p72)
| chromosome = 22
| locus = 22q13.31
| NCBI Gene ID = 10521
| OMIM =
| Ensembl ID = ENSG00000100226
| UniProt ID = Q9H0F4
| associated_diseases = Amyotrophic Lateral Sclerosis (ALS), Parkinson's Disease
}}
DDX17 (DEAD-Box Helicase 17), also known as p72, is a member of the DEAD-box RNA helicase family. It functions as an ATP-dependent RNA helicase with roles in transcription regulation, alternative splicing, and microRNA processing. DDX17 interacts with various transcriptional coactivators and RNA processing factors, making it a key regulator of gene expression programs.
DDX17 has emerging roles in neurodegenerative diseases:
DDX17 is widely expressed in human tissues with high expression in brain, heart, and skeletal muscle. In the brain, DDX17 is expressed in neurons and glia, with particular enrichment in the basal ganglia and substantia nigra, regions affected in Parkinson's disease.
The study of Ddx17 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.
Linder P, Jankowsky E. From unwinding to clamping - the DEAD box RNA helicase family. Nat Rev Mol Cell Biol. 2011;12(8):505-516.
Jankowsky E. RNA helicases at work: binding and rearranging. Trends Biochem Sci. 2011;36(1):19-29.
P Vijay Kumar. RNA helicases in growth and disease. Exp Biol Med (Maywood). 2021;246(5):582-595.
The DDX17 Gene is involved in various cellular processes in the nervous system. This entity plays important roles in neuronal function, gene expression regulation, and cellular homeostasis. Dysfunction has been implicated in neurodegenerative diseases including Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis.
The DDX17 Gene participates in multiple molecular pathways critical for neuronal health. It is expressed in various brain regions and cell types, where it contributes to synaptic transmission, gene regulation, and intracellular signaling cascades.
Alterations in DDX17 Gene expression or function have been associated with several neurodegenerative conditions. Research suggests that this entity may serve as a therapeutic target for disease modification in AD, PD, and related disorders.