基因名:
RLBP1
产品别名:
CRALBP; RLBP1; retinaldehyde binding protein 1; retinaldehyde binding protein 1; retinaldehyde-binding protein 1; cellular retinaldehyde-binding protein; cellular retinaldehyde-binding protein-1; 细胞视黄醛结合蛋白1; 视黄醛结合蛋白1(RLBP1);
背景信息:
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]