Gene Symbol | RLBP1 |
Entrez Gene ID | 6017 |
Full Name | retinaldehyde binding protein 1 |
Synonyms | CRALBP |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Fundus albipunctatus, 136880 (3); Retinitis punctata albescens, 136880 (3); Newfoundland rod-cone dystrophy, 607476 (3); Bothnia retinal dystrophy, 607475 (3) |