Human NDP Knockout Cell Line-PC3

The NDP gene, also known as the Norrin cystine knot growth factor gene, is located at position Xp11.43 on the X chromosome. Norrin is the protein encoded by the NDP gene, and its important function is its role in the Wnt signaling pathway, which is essential for cell proliferation, adhesion, and migration. Norrin specifically binds to the frizzled-4 receptor and mainly promotes retinal cell development and the establishment of the blood supply required for the retina and inner ear. Disruption of this signaling pathway due to NDP mutations leads to the accumulation of immature retinal cells and abnormal blood vessel development, which leads to the clinical manifestations of Norrie disease.

The NDP gene is essential for normal eye and blood vessel development, and its mutation causes Norrie disease. Norrie disease is a rare X-linked recessive genetic disease that mainly affects males, although female carriers may show mild symptoms in rare cases due to factors such as X chromosome inactivation. Norrie disease appears at birth or shortly after birth and usually manifests as severe retinal abnormalities, such as retinal detachment, and progresses to complete blindness. Other ocular abnormalities include leukocoria (abnormal white reflection of the retina), cataracts, and iris degeneration. Over time, the eye may atrophy and undergo further morphological changes, so early diagnosis and intervention are critical.