Gene: RLBP1

Alternate names for this Gene: CRALBP

Gene Summary: The protein encoded by this gene is a 36-kD water-soluble protein which carries 11-cis-retinaldehyde or 11-cis-retinal as physiologic ligands. It may be a functional component of the visual cycle. Mutations of this gene have been associated with severe rod-cone dystrophy, Bothnia dystrophy (nonsyndromic autosomal recessive retinitis pigmentosa) and retinitis punctata albescens.

Gene is located in Chromosome: 15

Location in Chromosome : 15q26.1

Description of this Gene: retinaldehyde binding protein 1

Type of Gene: protein-coding

rs28933990 in RLBP1 gene and Bothnia Retinal Dystrophy PMID 10102298 1999 Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26.

rs137853290 in RLBP1 gene and Fundus Albipunctatus PMID 11453974 2001 Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1.

PMID 9326942 1997 Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa.

PMID 10102299 1999 Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens.

PMID 11453974 2001 Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1.

rs137853291 in RLBP1 gene and Retinitis Pigmentosa PMID 10102299 1999 Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens.