| Tbio | 11-cis retinol dehydrogenase |
Stereospecific 11-cis retinol dehydrogenase, which catalyzes the final step in the biosynthesis of 11-cis retinaldehyde, the universal chromophore of visual pigments. Also able to oxidize 9-cis-retinol and 13-cis-retinol, but not all-trans-retinol. Active in the presence of NAD as cofactor but not in the presence of NADP.
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. [provided by RefSeq, Dec 2010]
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. [provided by RefSeq, Dec 2010]
Comments
| Disease | Target Count |
|---|---|
| Night Blindness | 101 |
| Difficulties with night vision | 87 |
| Retinal flecking | 7 |
| Retinitis punctata albescens (disorder) | 4 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Refractive error | 50 | 0.0 | 3.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Fundus dystrophy | 83 | 6.8 | 3.4 |
| Cone dystrophy | 71 | 5.24 | 2.6 |
| Retinitis Pigmentosa | 226 | 4.758 | 2.4 |
| Bradyopsia | 10 | 3.524 | 1.8 |
| Scotoma | 22 | 3.156 | 1.6 |
| cone-rod dystrophy | 59 | 3.012 | 1.5 |
| Disease | Target Count |
|---|---|
| Pigmentary retinal dystrophy | 4 |
MWLPLLLGALLWAVLWLLRDRQSLPASNAFVFITGCDSGFGRLLALQLDQRGFRVLASCLTPSGAEDLQR 1 - 70 VASSRLHTTLLDITDPQSVQQAAKWVEMHVKEAGLFGLVNNAGVAGIIGPTPWLTRDDFQRVLNVNTMGP 71 - 140 IGVTLALLPLLQQARGRVINITSVLGRLAANGGGYCVSKFGLEAFSDSLRRDVAHFGIRVSIVEPGFFRT 141 - 210 PVTNLESLEKTLQACWARLPPATQAHYGGAFLTKYLKMQQRIMNLICDPDLTKVSRCLEHALTARHPRTR 211 - 280 YSPGWDAKLLWLPASYLPASLVDAVLTWVLPKPAQAVY 281 - 318 //
