Mar 30, 2025 · NPHP4 (Nephrocystin 4) is a Protein Coding gene. Diseases associated with NPHP4 include Nephronophthisis 4 and Senior-Loken Syndrome 4. Among its related pathways are Organelle biogenesis and maintenance and Loss of Nlp from mitotic centrosomes. Gene Ontology (GO) annotations related to this gene include structural molecule activity.

Nephrocystin-4 is a protein that in humans is encoded by the NPHP4 gene. [5][6][7] This gene encodes a protein which contains a proline -rich region. The encoded protein may function in renal tubular development and function. This protein interacts with nephrocystin. Mutations in this gene are associated with nephronophthisis type 4.

May 16, 2011 · In this paper, we show that NPHP4, a known cilia-associated protein that is mutated in the severe degenerative renal disease nephronophthisis, acts as a potent negative regulator of mammalian Hippo signaling.

Sequencing the coding exons of the NPHP4 gene showed 2 novel missense homozygous mutations that segregated with disease and were not found in controls. Given both the genetic linkage to the NPHP4 gene and the existence of rare nonconservative variants, we believe the diagnosis of NPHP is correct.

Feb 8, 2025 · NPHP4 mutations are associated with cardiac laterality defects and heterotaxy. Identify NPHP4 as a negative regulator of the Hippo pathway and suggest that NPHP4 regulates cell proliferation through its effects on Hippo signaling.

Jul 18, 2024 · In 2 brothers from a consanguineous Italian family (F96) with juvenile nephronophthisis (NPHP4; 606966), Mollet et al. (2002) identified a c.2377C-T transition in exon 18 of the NPHP4 gene, resulting in a gln793-to-ter (Q793X) substitution.

Feb 8, 2025 · Title: NPHP4 mutation is linked to cerebello-oculo-renal syndrome and male infertility. The ciliary protein nephrocystin-4 translocates the canonical Wnt regulator Jade-1 to the nucleus to negatively regulate beta-catenin signaling.

Jan 4, 2025 · NPHP4 nephrocystin 4 Gene ID: 261734, updated on 4-Jan-2025 Gene type: protein coding Also known as: POC10; SLSN4. See all available tests in GTR for this gene; Go to complete Gene record for NPHP4; Go to Variation Viewer for NPHP4 variants; Summary. This gene encodes a protein involved in renal tubular development and function.

Nov 1, 2014 · The protein nephrocystin-4 (NPHP4) is widespread in ciliated organisms, and defects in NPHP4 cause nephronophthisis and blindness in humans. To learn more about the function of NPHP4, we have studied it in Chlamydomonas reinhardtii.

NPHP4 - nephrocystin 4 Synonym(s): KIAA0673, POC10, POC10 centriolar protein homolog (Chlamydomonas), SLSN4, nephroretinin Previous symbol(s) and name(s): nephronophthisis 4