NUS1

Chr 6

NUS1 dehydrodolichyl diphosphate synthase subunit

Also known as: C6orf68, CDG1AA, MGC:7199, MRD55, NgBR, TANGO14

NCBI Gene: 116150 ENSG00000153989 UniProt: Q96E22

This protein is essential for dolichol synthesis and protein glycosylation as a subunit of cis-prenyltransferase in the endoplasmic reticulum. Mutations cause congenital disorder of glycosylation type 1aa and intellectual developmental disorder with seizures through loss-of-function mechanisms. The condition follows both autosomal recessive and autosomal dominant inheritance patterns.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

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. [provided by RefSeq, May 2017]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCongenital disorder of glycosylation 1AA

UniProtIntellectual developmental disorder, autosomal dominant 55, with seizures

Clinical highlights

Gene-disease validity (ClinGen)

progressive myoclonus epilepsy · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.25

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

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