Defective RDH12 does not reduce atRAL to atROL

Stable Identifier
R-HSA-2466861
Type
Reaction [transition]
Species
Homo sapiens
Compartment
photoreceptor inner segment membrane, cytosol
ReviewStatus
5/5
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Defective RDH12 does not reduce atRAL to atROL
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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. Mutants that abolish RDH12 activity to result in LCA13 are Y226C, Q189X (Janecke et al, 2004), p.Ala269fxX270 (Perault et al. 2004, Janecke et al, 2004) and H151N (Perault 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. 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

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
Input
Participates
as an event of
Catalyst Activity

all-trans-retinol dehydrogenase (NADP+) activity of RDH12 LOF variants [photoreceptor inner segment membrane]

Physical Entity
RDH12 LOF variants [photoreceptor inner segment membrane] (Homo sapiens)
Activity
all-trans-retinol dehydrogenase (NADP+) activity (GO:0052650)
Normal reaction
RDH12 reduces atRAL to atROL (Homo sapiens)
Functional status

Loss of function of RDH12 LOF variants [photoreceptor inner segment membrane]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
Leber congenital amaurosis DOID:14791 Leber's disease, Leber's congenital amaurosis, AMAUROSIS CONGENITA OF LEBER I, Leber's disease, Leber's amaurosis (disorder)
Authored
Jassal, B  (2012-09-12)
Reviewed
Matthews, L  (2024-08-15)
Blaner, WS  (2013-01-31)
Created
Jassal, B  (2012-09-12)
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