RDH8 Back

retinol dehydrogenase 8 (all-trans)

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NCBI Description of RDH8

All-trans-retinol dehydrogenase (RDH8) is a visual cycle enzyme that reduces all-trans-retinal to all-trans-retinol in the presence of NADPH (Rattner et al., 2000 [PubMed 10753906]). It is a member of the short chain dehydrogenase/reductase family and is located in the outer segments of photoreceptors; hence it is also known as photoreceptor retinol dehydrogenase. It is important in the visual cycle by beginning the rhodopsin regeneration pathway by reducing all-trans-retinal, the product of bleached and hydrolysed rhodopsin (Rando, 2001 [PubMed 11710234]). This is a rate-limiting step in the visual cycle (Saari et al., 1998 [PubMed 9667000]).[supplied by OMIM, Mar 2008].

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

RDH8 is highly significantly mutated in
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RDH8 is significantly mutated in
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RDH8 is near significance in
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Data details


Mutation list for RDH8