RDH5 (AAH28298, 181 a.a. ~ 280 a.a) partial recombinant protein with GST tag. The sequence is GLEAFSDSLRRDVAHFGIRVSIVEPGFFRTPVTNLESLEKTLQACWARLPPATQAHYGGA FLTKYLKMQQRIMNLICDPDLTKVSRCLEHALTARHPRTR
This gene encodes an enzyme belonging to the short-chain dehydrogenases/reductases (SDR) family. This retinol dehydrogenase functions to catalyze the final step in the biosynthesis of 11-cis retinaldehyde, which is the universal chromophore of visual pigments. Mutations in this gene cause autosomal recessive fundus albipunctatus, a rare form of night blindness that is characterized by a delay in the regeneration of cone and rod photopigments. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream BLOC1S1 (biogenesis of lysosomal organelles complex-1, subunit 1) gene.
Pathway
Disease; Retinol metabolism; Signal Transduction; Visual phototransduction.
Citations
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