AlphaFold predicted structure
CRX · O43186
Mean pLDDT
60.5/ 100
Low
299 residues
Confidence breakdown
- Very high(≥ 90)19%
- Confident(70–90)3%
- Low(50–70)38%
- Very low(< 50)40%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
CRX
Chr 19q13.33cone-rod homeobox
- Aliases:
- CRD, LCA7, OTX3
- MANE:
- ENST00000221996.12
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownRetinal disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownGlaucoma (developmental)
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOphthalmological ciliopathies
Primary ciliary disorders
Rare multisystem ciliopathy disorders
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Disease associations (Open Targets)
Leber congenital amaurosis
0.74cone-rod dystrophy 2
0.73Leber congenital amaurosis 7
0.72retinitis pigmentosa
0.72Cone rod dystrophy
0.71cone-rod dystrophy
0.57Retinal dystrophy
0.57autosomal dominant retinitis pigmentosa
0.55neurodegenerative disease
0.53benign concentric annular macular dystrophy
0.48
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Cone-rod homeobox protein
Transcription factor that binds and transactivates the sequence 5'-TAATC[CA]-3' which is found upstream of several photoreceptor-specific genes, including the opsin genes. Acts synergistically with other transcription factors, such as NRL, RORB and RAX, to regulate photoreceptor cell-specific gene transcription. Essential for the maintenance of mammalian photoreceptors
Diseases associated with CRX
Curated MONDO disease pages that list CRX among their top associated genes.