Medicine:NUS1
Nuclear undecaprenyl pyrophosphate synthase 1 homolog (NUS1), or dehydrodolichyl diphosphate synthase complex subunit NUS1, or Nogo-B receptor (NgBR) is a protein that in humans is encoded by the NUS1 gene.[1] Mutations within the NUS1 gene lead to a diagnosis of an NUS1 genetic disorder.[2]
Gene
In humans NUS1 is located on is a chromosome 6q22.1.[1]
Clinical significance
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
- ↑ 1.0 1.1 "NUS1 ehydrodolichyl diphosphate synthase subunit [ Homo sapiens (human) "]. 11 June 2025. https://www.ncbi.nlm.nih.gov/gene/116150.
- ↑ 2.0 2.1 "What is NUS1". https://www.nus1foundation.org/whatisnus1.
- ↑ "NUS1 and Epilepsy-myoclonus-ataxia Syndrome: An Under-recognized Entity?". Tremor and Other Hyperkinetic Movements (New York, N.Y.) 12 (1): 21. 2022. doi:10.5334/tohm.696. PMID 35949226.
- ↑ "Parkinson's disease - genetic cause" (in en-US). Current Opinion in Neurology 36 (4): 292–301. August 2023. doi:10.1097/WCO.0000000000001167. PMID 37366140.
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