Neural retina-specific leucine zipper protein

Definition

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.

References:

[1]. Atsuhiro Kanda, et al. Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity. Hum Mutat. 2007 Jun;28(6):589-98. [Content Brief]

[2]. I Hernan, et al. Novel p.M96T variant of NRL and shRNA-based suppression and replacement of NRL mutants associated with autosomal dominant retinitis pigmentosa. Clin Genet. 2012 Nov;82(5):446-52. [Content Brief]

生物医学辞典

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