NUS1
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Dehydrodolichyl diphosphate synthase subunit (NUS1)[1] is a gene on chromosome 6q22.1 of humans. Mutations within the NUS1 gene lead to a diagnosis of an NUS1 genetic disorder.[2]
Gene
[edit]If both copies of the NUS1 gene bear a mutation, the severe and rare disorder NUS1-CDG can occur. However, most patients only present with a mutation on one copy of the gene; this nevertheless causes a progressive neurological condition.[2] Mutations of the NUS1 gene are associated with epilepsy, intellectual disability, and mild cerebellar ataxia.[3]
NUS1 has been identified as a potential candidate gene for Parkinson's disease in Han Chinese people.[4]
References
[edit]- ^ "NUS1 ehydrodolichyl diphosphate synthase subunit [ Homo sapiens (human) ]". National Library of Medicine. 11 June 2025. Retrieved 23 June 2025.
- ^ a b "What is NUS1". NUS1 Foundation. Retrieved 23 June 2025.
- ^ Riboldi, GM (2022). "NUS1 and Epilepsy-myoclonus-ataxia Syndrome: An Under-recognized Entity?". Tremor and Other Hyperkinetic Movements. 12 (1): 21. doi:10.5334/tohm.696. PMC 9205445. PMID 35949226.
- ^ Cherian, Ajith; K. P, Divya; Vijayaraghavan, Asish (August 2023). "Parkinson's disease – genetic cause". Current Opinion in Neurology. 36 (4): 292–301. doi:10.1097/WCO.0000000000001167. ISSN 1350-7540. PMID 37366140.