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Nephrocystin-3 (NPHP3)
- Target
- NPHP3
- Molecular classification
- Other (cilia-associated scaffold protein; contains coiled-coil domain, tubulin-tyrosine ligase domain, tetratrico peptide repeat domain)
01
Overview
Nephrocystin-3 is a cilia-associated scaffold protein essential for normal ciliary development and renal tubular development in humans. It contains multiple protein-interaction domains, including coiled-coil, tubulin-tyrosine ligase, and tetratrico peptide repeats. The protein interacts with nephrocystin and serves critical roles in ciliary function, kidney morphogenesis, and the regulation of Wnt signaling pathways. Mutations in the NPHP3 gene result in several severe ciliopathies, including nephronophthisis type 3, Meckel syndrome type 7, and renal-hepatic-pancreatic dysplasia[1][2][3][6].
- Other names
- KIAA2000NPH3FLJ30691FLJ36696MKS7SLSN3CFAP31Meckel syndrome type 7 proteincilia and flagella associated protein 31RHPDRHPD1Nephronophthisis 3 (adolescent)
02
Biological functions
Ciliary development and functionRenal tubular development and functionRegulation of Wnt signaling (both canonical and non-canonical pathways)Planar cell polarity regulation
03
Disease associations
CiliopathyNephronophthisis type 3 (adolescent-onset nephronophthisis)Meckel syndrome type 7Renal-hepatic-pancreatic dysplasia
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