Aliases for DHDDS Gene
External Ids for DHDDS Gene
Previous GeneCards Identifiers for DHDDS Gene
The protein encoded by this gene catalyzes cis-prenyl chain elongation to produce the polyprenyl backbone of dolichol, a glycosyl carrier lipid required for the biosynthesis of several classes of glycoproteins. Mutations in this gene are associated with retinitis pigmentosa type 59. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
GeneCards Summary for DHDDS Gene
DHDDS (Dehydrodolichyl Diphosphate Synthase Subunit) is a Protein Coding gene. Diseases associated with DHDDS include Retinitis Pigmentosa 59 and Developmental Delay And Seizures With Or Without Movement Abnormalities. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring alkyl or aryl (other than methyl) groups.
UniProtKB/Swiss-Prot Summary for DHDDS Gene
With NUS1, forms the dehydrodolichyl diphosphate synthase (DDS) complex, an essential component of the dolichol monophosphate (Dol-P) biosynthetic machinery. Both subunits contribute to enzymatic activity, i.e. condensation of multiple copies of isopentenyl pyrophosphate (IPP) to farnesyl pyrophosphate (FPP) to produce dehydrodolichyl diphosphate (Dedol-PP), a precursor of dolichol phosphate which is utilized as a sugar carrier in protein glycosylation in the endoplasmic reticulum (ER) (PubMed:25066056, PubMed:28842490). Regulates the glycosylation and stability of nascent NPC2, thereby promoting trafficking of LDL-derived cholesterol (PubMed:21572394).