Defective DHDDS causes retinitis pigmentosa 59

Stable Identifier
R-HSA-4755609
Type
Pathway
Species
Homo sapiens
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The ER membrane-associated enzyme dehydrodolichyl diphosphate synthase (DHDDS) (Endo et al. 2003) 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) (Shridas et al. 2003). Dolichol in humans contain homologues ranging from 17-23 isoprene units, the most common homologues contain 19 or 20 isoprene units (Freeman et al. 1980). Dolichol is an important substrate in the N-glycosylation of proteins, including rhodopsin.

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 (Zuchner et al. 2011).

Literature References
PubMed ID Title Journal Year
21295283 Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa

Z├╝chner, S, Dallman, J, Wen, R, Beecham, G, Naj, A, Farooq, A, Kohli, MA, Whitehead, PL, Hulme, W, Konidari, I, Edwards, YJ, Cai, G, Peter, I, Seo, D, Buxbaum, JD, Haines, JL, Blanton, S, Young, J, Alfonso, E, Vance, JM, Lam, BL, Pericak-Vance, MA

Am. J. Hum. Genet. 2011
7374371 Analysis of dolichol in human tissues by high pressure liquid chromatography

Freeman, DJ, Rupar, CA, Carroll, KK

Lipids 1980
14652022 Identification and characterization of a cDNA encoding a long-chain cis-isoprenyltranferase involved in dolichyl monophosphate biosynthesis in the ER of brain cells

Shridas, P, Rush, JS, Waechter, CJ

Biochem. Biophys. Res. Commun. 2003
12591616 Identification of human dehydrodolichyl diphosphate synthase gene

Endo, S, Zhang, YW, Takahashi, S, Koyama, T

Biochim. Biophys. Acta 2003
Participants
Participant Of
Disease
Name Identifier Synonyms
retinitis pigmentosa 10584 RP, Retinitis pigmentosa (disorder), retinitis pigmentosa-1, Retinitis pigmentosa, Retinitis pigmentosa
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