Defective visual phototransduction due to RDH12 loss of function

Stable Identifier
R-HSA-9918440
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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Defective visual phototransduction due to RDH12 loss of function
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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 Leber congenital amaurosis type 13 (LCA13; MIM:612712). LCA defects are early-onset and severe retinal degenerations that are responsible for the most common cause of congenital blindness in infants and children (Janecke et al. 2004; Perrault et al. 2004).

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 (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

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

Am. J. Med. Genet. A 2009
15258582 Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy

Becker, C, Wissinger, B, Heckenlively, J, Utermann, G, Nürnberg, P, Nair, AR, McHenry, CL, Hübner, CA, Gal, A, Schmid, E, Thompson, DA, Janecke, AR, Rüschendorf, F

Nat. Genet. 2004
15322982 Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis

Munnich, A, Perrault, I, Dufier, JL, Gerber, S, Rozet, JM, Barbet, F, Hamel, C, Dollfus, H, Ducroq, D, Hanein, S, Kaplan, J

Am. J. Hum. Genet. 2004
Participants
Events
Participates
as an event of
Disease
Name Identifier Synonyms
retinal disease DOID:5679 Retinopathy (disorder), Retinal disorder, retina disorder
Authored
Jassal, B  (2012-09-12)
Reviewed
Matthews, L  (2024-08-15)
Created
Orlic-Milacic, M  (2024-08-15)
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