Gene: NUS1

Alternate names for this Gene: C6orf68|CDG1AA|MGC:7199|MRD55|NgBR|TANGO14

Gene Summary: This gene encodes a type I single transmembrane domain receptor, which is a subunit of cis-prenyltransferase, and serves as a specific receptor for the neural and cardiovascular regulator Nogo-B. The encoded protein is essential for dolichol synthesis and protein glycosylation. This gene is highly expressed in non-small cell lung carcinomas as well as estrogen receptor-alpha positive breast cancer cells where it promotes epithelial mesenchymal transition. This gene is associated with the poor prognosis of human hepatocellular carcinoma patients. Naturally occurring mutations in this gene cause a congenital disorder of glycosylation and are associated with epilepsy. A knockout of the orthologous gene in mice causes embryonic lethality before day 6.5. Pseudogenes of this gene have been defined on chromosomes 13 and X.

Gene is located in Chromosome: 6

Location in Chromosome : 6q22.1

Description of this Gene: NUS1 dehydrodolichyl diphosphate synthase subunit

Type of Gene: protein-coding

rs2498589 in NUS1 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs886037858 in NUS1 gene and CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa PMID 25066056 2014 Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation.