Cellular retinaldehyde-binding protein (CRALBP) (CRALBP)

Cellular retinaldehyde-binding protein (CRALBP), encoded by the RLBP1 gene, is a 36-kDa water-soluble protein that plays an essential role in the visual cycle (Wikipedia, NIH). It is primarily expressed in the retinal pigment epithelium (RPE) and Müller glia, where it serves as a carrier for 11-cis-retinoids, specifically 11-cis-retinal and 11-cis-retinol (NIH, ARVO). By binding these ligands, CRALBP facilitates their enzymatic processing and transport, protecting them from thermal isomerization and ensuring the regeneration of visual pigments in photoreceptors (Wikipedia, ARVO). Mutations in the RLBP1 gene are linked to several autosomal recessive retinal dystrophies, such as Bothnia dystrophy and retinitis punctata albescens, which manifest as severely delayed dark adaptation and progressive vision loss (NIH, Wikipedia). Therapeutic efforts are currently focused on gene supplementation using adeno-associated virus (AAV) vectors to deliver functional RLBP1 to the retina (Novartis, NIH). Clinical trials for candidates like AAV8-RLBP1 have shown promise in improving night vision and dark adaptation kinetics, addressing the underlying chromophore deficiency in affected individuals (NIH, Nature Communications).

Other names

RLBP1Retinaldehyde-binding protein 1Cellular retinaldehyde-binding protein 1

Gene supplementation therapy to restore functional CRALBP protein levels in the retinal pigment epithelium and Müller glia, thereby facilitating the regeneration of 11-cis-retinal in the visual cycle.