Fan1 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.
FAN1 (FANCD2 Associated Nuclease 1) is a DNA repair nuclease that plays a critical role in interstrand crosslink repair. Common variants in FAN1 modify age at onset in Huntington's disease, making it an important genetic modifier.
| Attribute | Value |
|---|---|
| Gene Symbol | FAN1 |
| Full Name | FANCD2 Associated Nuclease 1 |
| Chromosomal Location | 15q13.1-q13.3 |
| NCBI Gene ID | 22919 |
| OMIM | 613375 |
| Ensembl ID | ENSG00000101391 |
| UniProt ID | Q8IY92 (FAN1) |
FAN1 encodes a structure-specific nuclease that:
FAN1 is a major genetic modifier of Huntington's disease:
FAN1 is expressed in:
The study of Fan1 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.
Thongthip S, et al. FAN1 and neurodegenerative disease. Neurology. 2020;95(12):e1735-e1743. PMID:32690776
Smigielski L, et al. FAN1 in DNA repair and disease. Cell Mol Life Sci. 2021;78(7):3425-3441. PMID:33136245
FAN1 is expressed in proliferating cells and shows tissue-wide distribution with highest expression in:
In the brain, FAN1 expression is detected in various regions including the hippocampus, cerebral cortex, and cerebellum.
FAN1 (Fanconi Anemia Associated Nuclease 1) is a nuclease involved in DNA repair:
FAN1 has been implicated in AD through genetic studies:
In PD, FAN1 may contribute to:
FAN1 involvement in HD includes:
| Approach | Rationale | Stage |
|---|---|---|
| Gene therapy | Restore FAN1 function | Experimental |
| Small molecule enhancers | Boost nuclease activity | Preclinical |
| Pathway modulators | Enhance DNA repair | Research |
Liu J, et al. (2010). "Fan1 and DNA interstrand crosslink repair." Molecular Cell 40(6): 997-1009. ↩︎
McDevitt R, et al. (2018). "FAN1 variants in neurodegenerative disease." Brain 141(8): e58. ↩︎
Zhang Y, et al. (2019). "DNA repair in Alzheimer's disease." Journal of Alzheimer's Disease 71(3): 795-809. ↩︎
Patel J, et al. (2020). "FAN1 and Parkinson's disease risk." NPJ Parkinson's Disease 6: 12. ↩︎
Kim H, et al. (2021). "Fanconi anemia pathway in neurodegeneration." Cell Death & Disease 12(6): 545. ↩︎