DISEASES

Disease-gene associations mined from literature

Literature associating NRL and enhanced S-cone syndrome

NRL [ENSP00000454062]

Neural retina-specific leucine zipper protein; Acts as a transcriptional activator which regulates the expression of several rod-specific genes, including RHO and PDE6B. Functions also as a transcriptional coactivator, stimulating transcription mediated by the transcription factor CRX and NR2E3. Binds in a sequence-specific manner to the rhodopsin promoter; Basic leucine zipper proteins

Synonyms:  NRL,  A8MX14,  H0YNW2,  P54845,  A8MX14p ...

Linkouts:  STRING  Pharos  UniProt