Defective RDH12 does not reduce atRAL to atROL

Stable Identifier
R-HSA-2471670
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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Retinol dehydrogenase RDH12 mediates the reversible, NADP(H)-dependent reduction of all-trans-retinal (atRAL) or 11-cis-retinal (11cRAL) to all-trans-retinol (atROL) or 11-cis-retinol (11cROL) respectively in photoreceptor cells.

Defects in RDH12 cause retinitis pigmentosa type 53 (RP53; MIM:612712), an autosomal recessive retinal dystrophy characterised by retinal pigment deposits and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptor cells. The A126V mutant causes RP53 (Benayoun et al. 2009).

Literature References
PubMed ID Title Journal Year
19140180 Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping

Benayoun, L, Spiegel, R, Auslender, N, Abbasi, AH, Rizel, L, Hujeirat, Y, Salama, I, Garzozi, HJ, Allon-Shalev, S, Ben-Yosef, T

Am. J. Med. Genet. A 2009
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
NADP-retinol dehydrogenase activity of RDH12 A126V [photoreceptor inner segment membrane]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
retinitis pigmentosa 10584 RP, Retinitis pigmentosa (disorder), retinitis pigmentosa-1, Retinitis pigmentosa, Retinitis pigmentosa
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