Pathway
Defective DHDDS causes RP59
The ER membrane-associated enzyme dehydrodolichyl diphosphate synthase (DHDDS) normally mediates the sequential head-to-tail cis addition of multiple isopentyl pyrophosphate (IPP) molecules to farnesyl pyrophosphate (E,E-FPP) to produce polyprenol pyrophosphate (pPPP). Dolichol in humans contain homologues ranging from 17-23 isoprene units, the most common homologues contain 19 or 20 isoprene units. Dolichol is an important substrate in the N-glycosylation of proteins, including rhodopsin.
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Defects in DHDDS cause retinitis pigmentosa 59 (RP59; MIM:613861), a pigment retinopathy, characterised by retinal pigment deposits (visible on fundus examination) and primary loss of rod photoreceptors followed by secondary loss of cone photoreceptors. Sufferers typically have night vision blindness and loss of mid to peripheral vision. As the condition progresses, they lose far peripheral vision and eventually central vision.
What the reference databases state
Statements
2 statements
2 statements · 1 reference database · Subject: Defective DHDDS causes RP59 · Sources: Reactome
- DHDDS participates in Defective DHDDS causes RP59ProteinReactome R-HSA-4755609Inferred only
- NUS1 participates in Defective DHDDS causes RP59ProteinReactome R-HSA-4755609Inferred only