NR5A1

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NPHP3

NPHP3 (Nephrocystin-3) is a protein encoded by the NPHP3 gene in humans. It is part of a group of proteins known as nephrocystins, which are associated with nephronophthisis, a genetic disorder that affects the kidneys. Nephrocystin-3 plays a crucial role in the function and structure of cilia, which are hair-like projections on the surface of cells that are important for cell signaling and fluid movement.

Function[edit | edit source]

Nephrocystin-3 is involved in the maintenance of primary cilia, which are essential for various signaling pathways. These pathways are critical for the development and function of multiple organ systems. The protein is localized to the ciliary transition zone, a region that acts as a barrier and gatekeeper for proteins entering the cilium.

Clinical Significance[edit | edit source]

Mutations in the NPHP3 gene are associated with nephronophthisis type 3, a form of the disease that typically presents in childhood or adolescence. This condition is characterized by kidney cysts, fibrosis, and eventual kidney failure. In addition to kidney involvement, mutations in NPHP3 can also lead to ciliopathies, which are disorders caused by defects in cilia function, affecting multiple organ systems.

Genetic Information[edit | edit source]

The NPHP3 gene is located on chromosome 3q22.1. It consists of multiple exons and encodes a protein that is approximately 1,330 amino acids in length. The gene is expressed in various tissues, with high expression in the kidney.

Research and Studies[edit | edit source]

Research on NPHP3 has focused on understanding its role in cilia function and its involvement in ciliopathies. Studies have shown that nephrocystin-3 interacts with other nephrocystins and proteins involved in ciliary function, such as NPHP1, NPHP2, and NPHP4. These interactions are crucial for the proper assembly and function of the ciliary apparatus.

Also see[edit | edit source]


Template:Nephronophthisis

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Contributors: Prab R. Tumpati, MD