Primary Identifier | MGI:1196365 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 52014 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables prenyltransferase activity. Acts upstream of or within cholesterol homeostasis; protein mannosylation; and regulation of intracellular cholesterol transport. Located in membrane. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder 55 and congenital disorder of glycosylation Iaa. Orthologous to human NUS1 (NUS1 dehydrodolichyl diphosphate synthase subunit). PHENOTYPE: Mice homozygous for a knock-out allele die prior to E6.5. MEFs homozygous for a conditionally activated knock-out allele exhibit impaired glycosylation. [provided by MGI curators] |