2024年12月25日 · 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 proteins required for interphase microtubule organization from the centrosome.

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.

该研究综合使用生化细胞、蛋白组学、电子显微镜、超分辨成像等技术，阐明了纤毛过渡区以 TCTN1 为代表的 MKS 复合物、以 NPHP4 为代表的 NPHP 复合物，和过渡区 / 基体 CEP290 蛋白协同控制过渡区超微结构组装，调控纤毛内组分的分子机制；同时建立了过渡区与纤毛外泌体的联系，发现了过渡区对纤毛外泌体形成和释放的调节作用。...

2024年7月18日 · In 3 sibs from a nonconsanguineous French family (F171) with juvenile nephronophthisis (NPHP4; 606966), who also exhibited oculomotor apraxia, Mollet et al. (2002) identified heterozygosity for a 1-bp deletion (c.3272delT) in exon 23 of the NPHP4 gene, causing a frameshift predicted to result in a premature termination codon (Val1091fsTer1121).

2025年2月8日 · 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.

2025年1月4日 · 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.

2011年5月16日 · 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.

Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]

2025年2月8日 · 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.

NPHP4，也被称为nphp4，与锥-棒视网膜病变1和Joubert综合征7有关，其症状包括多尿和多饮。 与NPHP4相关的基因是NPHP4（Nephrocystin 4），其相关通路/超通路包括视觉光转导和Joubert综合征。