The First Homozygote Mutation c.499G>T (Asp167Tyr) in the <i>RPE65</i> Gene Encoding Retinoid <i>Isomerohydrolase</i> Causing Retinal Dystrophy
RPE65, an abundant membrane-associated protein present in the retinal pigment epithelium (RPE), is a vital retinoid isomerase necessary for regenerating 11-<i>cis</i>-retinaldehyde from <i>all-trans</i> retinol in the visual cycle. In patients with inherited retinal dystrophy...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2022-12-01
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| Series: | Current Issues in Molecular Biology |
| Subjects: | |
| Online Access: | https://www.mdpi.com/1467-3045/44/12/436 |