功能： disease:Defects in NDP are the cause of Norrie disease (ND) [MIM:310600]; also known as atrophia bulborum hereditaria or Episkopi blindness. ND is a recessive disorder characterized by very early childhood blindness due to degenerative and proliferative changes of the neuroretina. Approximately 50% of patients show some form of progressive mental disorder, often with psychotic features, and about one-third of patients develop sensorineural deafness in the second decade. In addition, some patients have more complex phenotypes, including growth failure and seizure.,disease:Defects in NDP are the cause of vitreoretinopathy exudative type 2 (EVR2) [MIM:305390]. EVR2 is a disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery.,function:Activates the canonical Wnt signaling pathway through FZD4 and an LRP coreceptor (By similarity). May be involved in a pathway that regulates neural cell differentiation and proliferation. Possible role in neuroectodermal cell-cell interaction.,online information:Retina International's Scientific Newsletter,similarity:Contains 1 CTCK (C-terminal cystine knot-like) domain.,subunit:Interacts with FZD4 (By similarity). Oligomer; disulfide-linked.,tissue specificity:Expressed in the outer nuclear, inner nuclear and ganglion cell layers of the retina, and in fetal and adult brain.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Secreted .
组织表达： Expressed in the outer nuclear, inner nuclear and ganglion cell layers of the retina, and in fetal and adult brain.
功能： disease:Defects in NDP are the cause of Norrie disease (ND) [MIM:310600]; also known as atrophia bulborum hereditaria or Episkopi blindness. ND is a recessive disorder characterized by very early childhood blindness due to degenerative and proliferative changes of the neuroretina. Approximately 50% of patients show some form of progressive mental disorder, often with psychotic features, and about one-third of patients develop sensorineural deafness in the second decade. In addition, some patients have more complex phenotypes, including growth failure and seizure.,disease:Defects in NDP are the cause of vitreoretinopathy exudative type 2 (EVR2) [MIM:305390]. EVR2 is a disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery.,function:Activates the canonical Wnt signaling pathway through FZD4 and an LRP coreceptor (By similarity). May be involved in a pathway that regulates neural cell differentiation and proliferation. Possible role in neuroectodermal cell-cell interaction.,online information:Retina International's Scientific Newsletter,similarity:Contains 1 CTCK (C-terminal cystine knot-like) domain.,subunit:Interacts with FZD4 (By similarity). Oligomer; disulfide-linked.,tissue specificity:Expressed in the outer nuclear, inner nuclear and ganglion cell layers of the retina, and in fetal and adult brain.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Secreted .
组织表达： Expressed in the outer nuclear, inner nuclear and ganglion cell layers of the retina, and in fetal and adult brain.
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