| UV Radiation Resistance Associated Gene | |
|---|---|
| Gene Symbol | UVRAG |
| Full Name | UV Radiation Resistance Associated Gene |
| Chromosome | 11q13.4 |
| NCBI Gene ID | [7405](https://www.ncbi.nlm.nih.gov/gene/7405) |
| OMIM | [604593](https://omim.org/entry/604593) |
| Ensembl ID | [ENSG00000136531](https://www.ensembl.org/Homo_sapiens/ENSG00000136531) |
| UniProt ID | [Q9P2K6](https://www.uniprot.org/uniprot/Q9P2K6) |
| Aliases | UVRAG, DTI2, VPS38 |
| Associated Diseases | [Alzheimer's Disease](/diseases/alzheimers-disease), [Parkinson's Disease](/diseases/parkinsons-disease), [ALS](/diseases/als), Cancer |
UVRAG (UV Radiation Resistance Associated Gene) encodes a key autophagy regulator that plays critical roles in autophagosome formation, maturation, and endosomal trafficking. Originally identified for its role in UV radiation resistance, UVRAG has emerged as a crucial player in neurodegenerative diseases through its regulation of protein clearance pathways.
The UVRAG gene spans approximately 50 kb on chromosome 11q13.4 and contains 20 exons encoding a 783-amino acid protein (89 kDa). The protein contains multiple functional domains including:
UVRAG is a component of the class III PI3K complex (PI3KC3), specifically the PI3KC3-C2 complex. It functions as a positive regulator of autophagy through multiple mechanisms[1]:
UVRAG interacts with several key proteins:
In Alzheimer's disease, UVRAG dysfunction contributes to pathogenesis through[3]:
The beclin 1-UVRAG interaction is particularly important for clearance of Aβ, and UVRAG deficiency in mouse models exacerbates amyloid pathology[4].
UVRAG plays a critical role in Parkinson's disease through mitophagy regulation[5]:
UVRAG is ubiquitously expressed with high levels in:
In the brain, UVRAG expression is particularly high in regions affected by neurodegeneration including the hippocampus and substantia nigra.
Strategies targeting UVRAG for neurodegenerative disease therapy include:
Liang et al. UVRAG: a novel autophagy regulator (2008). 2008. ↩︎
He et al. The UVRAG-Rubicon axis regulates autophagosome maturation (2013). 2013. ↩︎
He et al. Autophagy dysfunction in Alzheimer's disease (2018). 2018. ↩︎
Pickford et al. Beclin 1 regulates neuronal viability (2008). 2008. ↩︎
Song et al. UVRAG in Parkinson's disease (2019). 2019. ↩︎