DISEASES

Disease-gene associations mined from literature

Literature associating RLBP1 and cone dystrophy

RLBP1 [ENSP00000268125]

Cellular retinaldehyde-binding protein; Soluble retinoid carrier essential the proper function of both rod and cone photoreceptors. Participates in the regeneration of active 11-cis-retinol and 11-cis-retinaldehyde, from the inactive 11-trans products of the rhodopsin photocycle and in the de novo synthesis of these retinoids from 11-trans metabolic precursors. The cycling of retinoids between photoreceptor and adjacent pigment epithelium cells is known as the 'visual cycle'.

Synonyms:  RLBP1,  RLBP1p,  hRLBP1,  H3BTN3,  P12271 ...

Linkouts:  STRING  Pharos  UniProt  OMIM