retinol dehydrogenase 12 (all-trans & 9-cis retinol dehydrogenase, RDH12)

Function

• oxidoreductive catalytic activity towards retinoids
• most efficient as an NADPH-dependent retinal reductase
• high activity toward 9-cis & all-trans-retinol
• metabolism of short-chain aldehydes
• No steroid dehydrogenase activity
• formation of 11-cis-retinal from 11-cis-retinol during regeneration of the cone visual pigments (putative)

Expression

• widely expressed
• mostly in eye, kidney, brain, skeletal muscle, stomach

Pathology

• defects in RDH12 are the cause of Leber congenital amaurosis type 3 (LCA3)

More general terms

• retinal dehydrogenase

Database

• OMIM: https://mirror.omim.org/entry/604232
• OMIM: https://mirror.omim.org/entry/608830
• UniProt: http://www.uniprot.org/uniprot/Q96NR8.html