| Gene Symbol |
NDP
|
| Entrez Gene |
4693
|
| Alt Symbol |
EVR2, FEVR, ND
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
Norrie disease (pseudoglioma)
|
| Other Description |
X-linked exudative vitreoretinopathy 2 protein|norrie disease protein|norrin
|
| Swissprots |
B2R8K6 Q00604 Q5JYH5
|
| Accessions |
EAW59376 Q00604 AK313409 BAG36203 AM392592 CAL37470 BC029901 AAH29901 BE139596 DA714180 X65724 CAA46639 X65882 CAA46713 NM_000266 NP_000257
|
| Function |
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.
|
| Subcellular Location |
Secreted {ECO:0000269|PubMed:9407136}.
|
| Tissue Specificity |
Expressed in the outer nuclear, inner nuclear and ganglion cell layers of the retina, and in fetal and adult brain. {ECO:0000269|PubMed:10452356}.
|
![Western Blot: NDP/Norrin Overexpression Lysate (Adult Normal) [NBL1-13528] Left-Empty vector transfected control cell lysate (HEK293 cell lysate); Right -Over-expression Lysate for NDP/Norrin.](http://www.bioprodhub.com/system/product_images/cel_products/5/sub_2/3017_NDP-Norrin%2520Overexpression%2520Lysate%2520(Adult%2520Normal)-Western%2520Blot-NBL1-13528-img0002.jpg)
