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- Table of Contents
Facts about Norrin.
Acts in concert with TSPAN12 to activate FZD4 independently of the Wnt-dependent activation of FZD4, implying the occurrence 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.
Human | |
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Gene Name: | NDP |
Uniprot: | Q00604 |
Entrez: | 4693 |
Belongs to: |
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No superfamily |
EVR2; exudative vitreoretinopathy 2 (X-linked); FEVR; ND; NDP; Norrie disease (pseudoglioma); Norrie disease protein; Norrin; X-linked exudative vitreoretinopathy 2 protein
Mass (kDA):
15.044 kDA
Human | |
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Location: | Xp11.3 |
Sequence: | X; NC_000023.11 (43948776..43973390, complement) |
Expressed in the outer nuclear, inner nuclear and ganglion cell layers of the retina, and in fetal and adult brain.
Secreted.
PMID: 1303235 by Berger W., et al. Isolation of a candidate gene for Norrie disease by positional cloning.
PMID: 1303236 by Chen Z.-Y., et al. Isolation and characterization of a candidate gene for Norrie disease.