norrin; Norrie disease protein; X-linked exudative vitreoretinopathy 2 protein (NDP, EVR2)

Function

• neural cell differentiation & proliferation (putative)
• activates the canonical Wnt signaling pathway through FZD4 & an LRP coreceptor (putative)
• possible role in neuroectodermal cell-cell interaction
• interacts with FZD4 (putative)

Structure

• oligomer
• disulfide-linked
• contains 1 CTCK domain (C-terminal cystine knot-like)

Compartment

secreted

Expression

• expressed in the outer nuclear, inner nuclear & ganglion cell layers of the retina
• expressed in fetal & adult brain

Pathology

• mutations seen in:
  • Norrie disease
  • X-linked familial exudative vitreoretinopathy

More general terms

• secreted protein

Database

• UniProt: http://www.uniprot.org/uniprot/Q00604.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4693
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:4693
• OMIM: https://mirror.omim.org/entry/300658
• OMIM: https://mirror.omim.org/entry/305390
• OMIM: https://mirror.omim.org/entry/310600