Retinal aldehyde-binding protein 1 (RLBP1) (RLBP1)

Retinal aldehyde-binding protein 1 (RLBP1), also known as cellular retinaldehyde-binding protein (CRALBP), is a critical protein expressed in the retinal pigment epithelium (RPE) and Müller glial cells of the eye [UniProt, P12271]. It serves as a carrier for 11-cis-retinoids, playing a vital role in the visual cycle by facilitating the regeneration of visual pigments after light exposure [NCBI Gene, 6017]. Mutations in the RLBP1 gene lead to various autosomal recessive retinal dystrophies, such as Bothnia dystrophy and retinitis punctata albescens, which are characterized by severely impaired dark adaptation and progressive loss of vision [PubMed, PMID: 31433513]. Because these diseases are caused by a lack of functional protein, the primary therapeutic approach is gene replacement therapy rather than traditional pharmacological inhibition or activation [ClinicalTrials.gov, NCT03374657]. Investigational treatments like CPK850 use adeno-associated virus (AAV) vectors to deliver a healthy copy of the RLBP1 gene directly to the retina [Novartis, 2020]. This restoration of RLBP1 function aims to normalize retinoid metabolism and preserve or improve visual function in patients with these rare genetic conditions [PubMed, PMID: 28817116]. Successful functional restoration could potentially halt the progression of retinal degeneration and improve the quality of life for affected individuals.

Other names

CRALBPCellular retinaldehyde-binding proteinRLBP1_HUMAN

Gene replacement therapy to restore functional expression of the RLBP1 protein in retinal pigment epithelium and Müller cells, thereby facilitating the regeneration of 11-cis-retinal and restoring the visual cycle.