AlphaFold predicted structure
NDP · Q00604
Mean pLDDT
83.6/ 100
Confident
133 residues
Confidence breakdown
- Very high(≥ 90)65%
- Confident(70–90)9%
- Low(50–70)16%
- Very low(< 50)10%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
NDP
Chr Xp11.3norrin cystine knot growth factor NDP
- Aliases:
- norrin
- MANE:
- ENST00000642620.1
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Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Bilateral congenital or childhood onset cataracts
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesDDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesFetal anomalies
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesIntellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesRetinal disorders
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Structural eye disease
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesEarly onset or syndromic epilepsy
Glaucoma (developmental)
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Disease associations (Open Targets)
Norrie disease
0.86Familial exudative vitreoretinopathy
0.81exudative vitreoretinopathy 2, X-linked
0.68Retinal dystrophy
0.54exudative vitreoretinopathy
0.47eye disorder
0.46vein disorder
0.45persistent hyperplastic primary vitreous
0.44Varicose veins
0.43lymphatic system disorder
0.40
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Norrin
Activates the canonical Wnt signaling pathway through FZD4 and LRP5 coreceptor. Plays a central role in retinal vascularization by acting as a ligand for FZD4 that signals via stabilizing beta-catenin (CTNNB1) and activating LEF/TCF-mediated transcriptional programs. Acts in concert with TSPAN12 to activate FZD4 independently of the Wnt-dependent activation of FZD4, suggesting the existence of a Wnt-independent signaling that also promote accumulation the beta-catenin (CTNNB1). May be involved in a pathway that regulates neural cell differentiation and proliferation. Possible role in neuroectodermal cell-cell interaction
Diseases associated with NDP
Curated MONDO disease pages that list NDP among their top associated genes.