Retinal aldehyde-binding protein 1 (RLBP1)

Retinal aldehyde-binding protein 1 (RLBP1), also known as cellular retinaldehyde-binding protein (CRALBP), is a 36-kDa water-soluble protein expressed in the retinal pigment epithelium (RPE) and Müller glial cells (UniProt P12271). It serves as a critical chaperone in the visual cycle, specifically binding 11-cis-retinal and 11-cis-retinol to facilitate their transport and protect them from thermal isomerization (PubMed: 10551271). Mutations in the RLBP1 gene are linked to several autosomal recessive retinal dystrophies, including Bothnia dystrophy, fundus albipunctatus, and retinitis pigmentosa 12, which are characterized by severely delayed dark adaptation and progressive visual impairment (NCBI Gene: 6017). RLBP1 is a significant therapeutic target for gene therapy, with investigational treatments like CPK850 utilizing adeno-associated virus (AAV) vectors to deliver functional RLBP1 genes to the retina (ClinicalTrials.gov: NCT03374657). These therapies aim to restore the visual cycle efficiency and preserve photoreceptor function in patients with RLBP1-associated diseases.

Other names

Cellular retinaldehyde-binding proteinCRALBPRLBP1

Gene replacement therapy to restore functional RLBP1 protein expression in the retina.