NRL

Chr 14q11.2-q12

neural retina leucine zipper

Aliases:: D14S46E, RP27, NRL-MAF
MANE:: ENST00000561028.6

OMIM: 162080 ↗NCBI: 4901 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

NRL · P54845

v62025-08-01

Predicted Aligned Error matrix for NRL — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

70.9/ 100

Confident

237 residues

Confidence breakdown

Very high(≥ 90)37%
Confident(70–90)8%
Low(50–70)31%
Very low(< 50)24%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Retinal disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Glaucoma (developmental)
Structural eye disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

retinitis pigmentosa
0.80
Retinal dystrophy
0.51
enhanced S-cone syndrome
0.50
phosphoenolpyruvate carboxykinase deficiency, mitochondrial
0.41
phosphoenolpyruvate carboxykinase deficiency
0.30
hereditary disease
0.19
Slow decrease in visual acuity
0.12
Abnormality of metabolism/homeostasis
0.12
Hypoplasia of the fovea
0.12
albinism
0.12

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Neural retina-specific leucine zipper protein

Acts as a transcriptional activator which regulates the expression of several rod-specific genes, including RHO and PDE6B (PubMed:21981118). Also functions as a transcriptional coactivator, stimulating transcription mediated by the transcription factor CRX and NR2E3 (PubMed:17335001). Binds to the rhodopsin promoter in a sequence-specific manner (PubMed:17335001)