Ask about this productRelated genes to: TTC8 antibody
- Gene:
- TTC8 NIH gene
- Name:
- tetratricopeptide repeat domain 8
- Previous symbol:
- -
- Synonyms:
- BBS8, RP51
- Chromosome:
- 14q31.3
- Locus Type:
- gene with protein product
- Date approved:
- 2002-12-17
- Date modifiied:
- 2013-02-14
Related products to: TTC8 antibody
Related articles to: TTC8 antibody
- In vertebrates, two genes, Musashi1 (Msi1) and Musashi2 (Msi2), encode for highly similar Musashi protein paralogs. The Musashi proteins are known to bind to 3'-UTRs and control translation. In photoreceptor cells, the Musashi proteins promote the inclusion of photoreceptor-specific alternative exons by binding to the proximal downstream of their introns. While the Musashi proteins are expressed in various cell types, their role in regulating splicing appears to be confined to photoreceptor cells, where the two proteins have exceptionally high expression levels. To test if the photoreceptor-specific role of MSI1 and MSI2 in splicing is due to their expression levels in photoreceptor cells, we generated combined Msi1 and Msi2 knockouts that progressively reduced the number of Musashi alleles in photoreceptor cells. We analyzed the splicing of photoreceptor-specific exons in the Cc2d2a, Cep290, Prom1, and Ttc8 genes and the function of photoreceptor cells in the knockouts. We found that a single allele from either Msi1 or Msi2 is sufficient to maintain photoreceptor function and support high inclusion levels of the photoreceptor-specific exons. - Source: PubMed
Publication date: 2026/05/14
Jeong BohyeStoilov Peter - Bardet-Biedl syndrome (BBS) is a rare ciliopathic disorder that segregates in an autosomal recessive manner. Genetic studies have so far identified 26 BBS-associated genes worldwide. This study analyzed a multiplex consanguineous Pakistani family with Bardet-Biedl syndrome. Genetic analysis was performed using whole-exome sequencing and Sanger sequencing. Additionally, in silico predictions were performed for functional characterization of the identified mutation. Whole exome analysis of this family identified a novel nonsense mutation [(NM_144596: exon11:c.C1047G: p.(Tyr349*)] in the 11th exon of TTC8 gene. The identified mutation presumably leads to removal of four TPR domains and C-terminus portion. Structural analyses of mutant TTC8 protein showed substantial morphologic and interactional variations, suggesting a defective role of the TTC8 protein in BBSome complex and thus its involvement in disease progression. Identification of novel mutation has expanded the mutational spectrum of TTC8. Moreover, these findings will help in genotype-phenotype association, prenatal diagnosis and genetic counseling of families at risk of BBS syndrome. - Source: PubMed
Publication date: 2026/02/09
Fatima SanaSun DongHan JianguoQiu MingAhmad SafeerZubair MuhammadAli Muhammad ZeeshanAbbas SafdarShafiq MariaMuzammal MuhammadGul HadiaKhan JabbarDu ShiweiKhan Muzammil Ahmad - In vertebrates, two genes, and , encode for highly similar protein paralogs. The proteins are known to bind to 3'-UTRs and control translation. In photoreceptor cells, the proteins promote the inclusion of photoreceptor-specific alternative exons by binding to the proximal downstream of their introns. While the proteins are expressed in various cell types, their role in regulating splicing appears to be confined to photoreceptor cells, where the two proteins have exceptionally high expression levels. To test if the photoreceptor-specific role of MSI1 and MSI2 in splicing is due to their expression levels in photoreceptor cells, we generated combined and knockouts that progressively reduced the number of alleles in photoreceptor cells. We analyzed the splicing of photoreceptor-specific exons in the , , , and genes and the function of photoreceptor cells in the knockouts. We found that a single allele from either or is sufficient to maintain photoreceptor function and support high inclusion levels of the photoreceptor-specific exons. - Source: PubMed
Publication date: 2025/12/01
Jeong BohyeStoilov Peter - Breast cancer (BC) is a major global health concern, ranking among the most common neoplasms and representing one of the leading causes of cancer-related deaths worldwide. Early recognition and classification of BC subtypes are crucial for improving patient outcomes. Therefore, identifying novel biomarkers with diagnostic and prognostic significance is of great importance. The Wnt signaling pathway plays a significant role in BC by influencing various cell cycle regulation processes and stem cell renewal. This study aims to identify novel Wnt-associated biomarker panels for BC patients, composed of multiple molecular factors. A series of bioinformatical analyses have been employed, including weighted gene co-expression network analysis, differential expression analysis, Kaplan-Meier survival analysis, logistic regression model evaluation, and receiver operating characteristic construction. Thus, this study revealed potential diagnostic and prognostic signatures based on comprehensive analyses of BC patient data sourced from The Cancer Genome Atlas database. Consequently, four gene signatures were constructed: two differentiate ER+ from ER-BC: and for overall survival (OS); and for disease free survival (DFS), while the other two effectively distinguish tumor from normal samples: for OS; and for DFS. - Source: PubMed
Publication date: 2025/10/08
Waszczykowska KlaudiaKołat DamianKałuzińska-Kołat ŻanetaPłuciennik Elżbieta - There is no clear guidance on prenatal diagnostic testing strategies for congenital renal anomalies. Therefore, this study aims to investigate the retrospective analysis of ultrasound and genetic diagnostic results in cases of fetal renal abnormalities and to establish genotype-phenotype correlations. - Source: PubMed
Publication date: 2025/09/24
Qin YayunWang BoZhu YuanyuanLiu LijunLiu NianYao YanyiLi HuiXu RunhongZhang ChengchengSong Jieping