Recombinant Human Dehydrodolichyl diphosphate synthase (DHDDS)

Uniprot Id

Q86SQ9

Target Species

Human

Target Name

DHDDS

Target Full Name

Dehydrodolichyl diphosphate synthase complex subunit DHDDS

Target Function

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). Synthesizes long-chain polyprenols, mostly of C95 and C100 chain length. Regulates the glycosylation and stability of nascent NPC2, thereby promoting trafficking of LDL-derived cholesterol.

Target Involvement

Retinitis pigmentosa 59 (RP59)

Target Subcellular Location

Endoplasmic reticulum membrane; Peripheral membrane protein. Note=colocalizes with calnexin.

Target Protein Families

UPP synthase family

Target Tissue Specificity

Expressed at high levels in testis and kidney. Expressed in epididymis (at protein level). Slightly expressed in heart, spleen and thymus.

Target Research Area

others

Target Synonyms

DHDDS; HDSDehydrodolichyl diphosphate synthase complex subunit DHDDS; EC 2.5.1.87; Cis-isoprenyltransferase; CIT; Cis-IPTase; Cis-prenyltransferase subunit hCIT; Epididymis tissue protein Li 189m

Target Background

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.