Literature associating NR2E1 and enhanced S-cone syndrome
NR2E1 [ENSP00000357979]
Nuclear receptor subfamily 2 group E member 1; Orphan receptor that binds DNA as a monomer to hormone response elements (HRE) containing an extended core motif half-site sequence 5'-AAGGTCA-3' in which the 5' flanking nucleotides participate in determining receptor specificity (By similarity). May be required to pattern anterior brain differentiation. Involved in the regulation of retinal development and essential for vision. During retinogenesis, regulates PTEN-Cyclin D expression via binding to the promoter region of PTEN and suppressing its activity (By similarity). May be involved in retinoic acid receptor (RAR) regulation in retinal cells. ; Belongs to the nuclear hormone receptor family. NR2 subfamily.
Synonyms: NR2E1, NR2E1p, hNR2E1, A6PVF6, B6ZGT9 ...