NDP

GENE INFORMATION

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Gene name

NDP (HGNC Symbol)

Synonyms

EVR2, norrin

Description

Norrie disease (pseudoglioma) (HGNC Symbol)

Entrez gene summary

This gene encodes a secreted protein with a cystein-knot motif that activates the Wnt/beta-catenin pathway. The protein forms disulfide-linked oligomers in the extracellular matrix. Mutations in this gene result in Norrie disease and X-linked exudative vitreoretinopathy. [provided by RefSeq, Feb 2009]

Chromosome

X

Cytoband

p11.3

Chromosome location (bp)

43808022 - 43832750

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000124479 (version 75.37)

Entrez gene

4693

UniProt

Q00604 (UniProt - Evidence at protein level)

neXtProt

NX_Q00604

Antibodypedia

NDP antibodies
 

PROTEIN VIEW

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NDP-001
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

NDP-001 ENSP00000367301
ENST00000378062
Q00604
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