2024年12月25日 · PCDH15 (Protocadherin Related 15) is a Protein Coding gene. Diseases associated with PCDH15 include Usher Syndrome, Type If and Deafness, Autosomal Recessive 23. Among its related pathways are Sensory processing of sound and Olfactory Signaling Pathway. Gene Ontology (GO) annotations related to this gene include calcium ion binding.

Family members encode integral membrane proteins that mediate calcium -dependent cell-cell adhesion. The protein product of this gene consists of a signal peptide, 11 extracellular calcium-binding domains, a transmembrane domain and a unique cytoplasmic domain. It plays an essential role in maintenance of normal retinal and cochlear function. [7] .

2022年5月30日 · Herein, we show that Pcdh15 knockdown significantly increases extracellular signal-related kinase (ERK) phosphorylation and activation to enhance OPC proliferation in vitro. Furthermore, Pcdh15...

2025年2月8日 · Protocadherin 15 suppresses oligodendrocyte progenitor cell proliferation and promotes motility through distinct signalling pathways. Whole-exome sequencing for ocular adnexal sebaceous carcinoma suggests PCDH15 as a novel mutation associated with metastasis.

2023年4月26日 · Usher syndrome type 1 F (USH1F), caused by mutations in the protocadherin-15 gene (PCDH15), is characterized by congenital deafness, lack of balance, and progressive blindness. In...

Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F).

2024年5月28日 · Recent extensive genomic studies have implicated the protocadherin-related 15 (PCDH15) gene in the onset of psychiatric disorders, such as bipolar disorder (BD). To further investigate the...

The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene. Nature Genet. 27: 99-102, 2001.

2024年12月10日 · Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF …

这个基因是钙粘蛋白超家族的成员之一。 家族成员编码整合膜蛋白，调节钙依赖的细胞间粘附。 它在维持正常的视网膜和耳蜗功能中扮演着关键角色。 这个基因的突变导致听力损失和Usher综合症1F型（USH1F）。 在小鼠正文中已经观察到了广泛的替代剪接，产生了多种异构体。 推测在人中也存在类似的替代剪接转录本，并且可能还存在其他变异。 [由RefSeq，2008年12月提供] Dir./Indir. Genome sequence of the Brown Norway rat yields insights into mammalian evolution.