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. Mutations within the NUS1 gene lead to a diagnosis of an NUS1 genetic disorder.
Gene In humans NUS1 is located on is a chromosome 6q22.1.
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. Mutations of the NUS1 gene are associated with epilepsy, intellectual disability, and mild cerebellar ataxia. NUS1 has been identified as a potential candidate gene for Parkinson's disease in Han Chinese people.
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