Ask about this productRelated genes to: CCDC117 antibody
- Gene:
- CCDC117 NIH gene
- Name:
- coiled-coil domain containing 117
- Previous symbol:
- -
- Synonyms:
- FLJ33814
- Chromosome:
- 22q12.1
- Locus Type:
- gene with protein product
- Date approved:
- 2006-06-27
- Date modifiied:
- 2019-02-18
Related products to: CCDC117 antibody
Related articles to: CCDC117 antibody
- Epilepsy is a common neurological disorder with high genetic heterogeneity and affects approximately 70 million people worldwide. Although several studies have combined Genome-Wide Association Studies (GWAS) with bulk expression quantitative trait loci (eQTLs) to explore epilepsy risk genes, the cellular context of genetic regulation remains insufficiently defined. - Source: PubMed
Publication date: 2026/04/21
Zhong Gao-YangLiu CongWang Hui-LingLiang ManLiu Zi-Long - Local testosterone regulation is critical for male fertility but poorly understood. We show that loss of CCDC117 triggers testosterone elevation despite lower luteinizing hormone levels, revealing a gonadotropin-independent compensatory mechanism that preserves fertility in smaller testes. AbstractThe local regulation of testicular steroidogenesis is essential for male fertility but remains incompletely understood. Here, we identify the testis-enriched protein CCDC117 as a critical, local brake on testicular testosterone production. Ccdc117 knockout mice exhibited a paradoxical phenotype: significant reduced testis size (∼21% reduction in weight) accompanied by diminished seminiferous tubule area, yet displaying fully preserved sperm production and near-normal fertility. Mechanistically, loss of CCDC117 triggers a cell-autonomous, compensatory upregulation of the steroidogenic pathway specifically in Leydig cells, leading to a 2-fold increase in serum testosterone without a rise in luteinizing hormone. Consistently, intratesticular testosterone levels were significantly elevated (∼1.5-fold), directly confirming enhanced local androgen production. This gonadotropin-independent hyperandrogenemia likely supports the maintenance of normal spermatogenic cell numbers within the compromised tubules, facilitating higher-efficiency spermatogenesis that ultimately preserves male fertility in the context of a smaller testis. Collectively, these findings demonstrate that CCDC117 deficiency releases a constitutive brake on Leydig cell steroidogenesis. The resulting compensatory hyperandrogenemia maintains reproductive function under structural compromise, thus uncovering a previously unrecognized local mechanism that ensures reproductive resilience. - Source: PubMed
Zang MinHuang WeiWang NinglingMa LinziWang BianWang KeHuang YutingWu HaiboFan YongZhao XinxiYang JingWang TiantianYao BingMa MengJin XinLin Kaibo - Next-generation sequencing enables the evaluation of gene expression changes resulting from virus-host interactions at the RNA level. Pseudorabies virus (PRV) causes substantial economic loss in the swine industry. Recent research has revealed that PRV can be transmitted to and infect humans as well. To identify physiopathological and pathological responses post-PRV infection, we characterized transcriptomic changes in the murine RAW 264.7 cell line over the course of 36 h. In total, 156, 153, and 190 differentially expressed genes were identified at 2 h, 12 h, and 36 h, respectively. Seven differentially expressed genes (Trim27, Ccdc117, Mrps12, Ccl4, Cerkl, Ubald1, and Hmga1-rs1) were present across all treatment groups. Our findings expand our knowledge of gene regulation and immune response following PRV infection. These differentially expressed genes can subsequently improve our understanding of PRV pathogenesis. - Source: PubMed
Publication date: 2022/10/21
Tong ChaoFu Peng-FeiMing Sheng-LiZeng LeiZhu He-ShuiWang Jiang - Specific adaptive features including disease resistance and growth abilities in harsh environments are attributed to indigenous cattle breeds of Benin, but these breeds are endangered due to crossbreeding. So far, there is a lack of systematic trait recording, being the basis for breed characterizations, and for structured breeding program designs aiming on conservation. Bridging this gap, own phenotyping for morphological traits considered measurements for height at withers (HAW), sacrum height (SH), heart girth (HG), hip width (HW), body length (BL) and ear length (EL), including 449 cattle from the four indigenous Benin breeds Lagune, Somba, Borgou and Pabli. In order to utilize recent genomic tools for breed characterizations and genetic evaluations, phenotypes for novel traits were merged with high-density SNP marker data. Multi-breed genetic parameter estimations and genome-wide association studies (GWAS) for the six morphometric traits were carried out. Continuatively, we aimed on inferring genomic regions and functional loci potentially associated with conformation, carcass and adaptive traits. - Source: PubMed
Publication date: 2020/11/11
Vanvanhossou Sèyi Fridaïus UlrichScheper CarstenDossa Luc HippolyteYin TongBrügemann KerstinKönig Sven - The cardiac transcription factor Nkx2-5 is essential for normal outflow tract (OFT) and right ventricle (RV) development. Nkx2-5 null mouse embryos display severe OFT and RV hypoplasia and a single ventricle phenotype due to decreased proliferation of Second Heart Field (SHF) cells, a pool of cardiac progenitors present in anterior pharyngeal arch mesoderm at mid-gestation. However, definition of the precise role of Nkx2-5 in facilitating SHF expansion is incomplete. We have found that Nkx2-5 positively and directly regulates a novel target gene, Ccdc117, in cells of the SHF at these stages. The nuclear/mitotic spindle associated protein Ccdc117 interacts with the MIP18/MMS19 cytoplasmic iron-sulfur (FeS) cluster assembly (CIA) complex, which transfers critical FeS clusters to several key enzymes with functions in DNA repair and replication. Loss of cellular Ccdc117 expression results in reduced proliferation rates associated with a delay at the G1-S transition, decreased rates of DNA synthesis, and unresolved DNA damage. These results implicate a novel role for Nkx2-5 in the regulation of cell cycle events in the developing heart, through Ccdc117's interaction with elements of the CIA pathway and the facilitation of DNA replication during SHF expansion. - Source: PubMed
Publication date: 2019/02/11
Horton Anthony JBrooker JohnStreitfeld William SFlessa Meaghan EPillai BalakrishnanSimpson RaychelClark Christopher DGooz Monika BSutton Kimberly KFoley Ann CLee Kyu-Ho