Aliases for DHDDS Gene
External Ids 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) is a Protein Coding gene. Diseases associated with DHDDS include retinitis pigmentosa 59 and dhdds-related retinitis pigmentosa. Among its related pathways are ERK Signaling and Actin Nucleation by ARP-WASP Complex. GO annotations related to this gene include transferase activity, transferring alkyl or aryl (other than methyl) groups.
UniProtKB/Swiss-Prot for DHDDS Gene
With DHDDS, forms the dehydrodolichyl diphosphate syntase (DDS) complex, an essential component of the dolichol monophosphate (Dol-P) biosynthetic machinery. Adds multiple copies of isopentenyl pyrophosphate (IPP) to farnesyl pyrophosphate (FPP) to produce dehydrodolichyl diphosphate (Dedol-PP), a precusrosor of dolichol which is utilized as a sugar carrier in protein glycosylation in the endoplasmic reticulum (ER). Regulates the glycosylation and stability of nascent NPC2, thereby promoting trafficking of LDL-derived cholesterol.