Ask about this productRelated genes to: C12ORF40 antibody
- Gene:
- C12orf40 NIH gene
- Name:
- chromosome 12 open reading frame 40
- Previous symbol:
- -
- Synonyms:
- FLJ40126
- Chromosome:
- 12q12
- Locus Type:
- gene with protein product
- Date approved:
- 2006-01-23
- Date modifiied:
- 2018-02-23
Related products to: C12ORF40 antibody
Related articles to: C12ORF40 antibody
- Recurrent pregnancy loss (RPL) is frequently associated with embryonic aneuploidy, yet paternal genetic contributors remain poorly understood. In this study, we investigated the genetic cause of a couple with oligoasthenoteratozoospermia (OAT) and a history of RPL involving recurrent sex chromosome aneuploidies. - Source: PubMed
Publication date: 2026/01/25
Chen YixinGuo JingWang JingCai BingXu YanZeng YanhongGao JunWang QiongMai QingyunXu Yanwen - During meiosis, at least one crossover must occur per homologous chromosome pair to ensure normal progression of meiotic division and accurate chromosome segregation. However, the mechanism of crossover formation is not fully understood. Here, we report a novel recombination protein, C12ORF40/REDIC1, essential for meiotic crossover formation in mammals. A homozygous frameshift mutation in C12orf40 (c.232_233insTT, p.Met78Ilefs*2) was identified in two infertile men with meiotic arrest. Spread mouse spermatocyte fluorescence immunostaining showed that REDIC1 forms discrete foci between the paired regions of homologous chromosomes depending on strand invasion and colocalizes with MSH4 and later with MLH1 at the crossover sites. Redic1 knock-in (KI) mice homozygous for mutation c.232_233insTT are infertile in both sexes due to insufficient crossovers and consequent meiotic arrest, which is also observed in our patients. The foci of MSH4 and TEX11, markers of recombination intermediates, are significantly reduced numerically in the spermatocytes of Redic1 KI mice. More importantly, our biochemical results show that the N-terminus of REDIC1 binds branched DNAs present in recombination intermediates, while the identified mutation impairs this interaction. Thus, our findings reveal a crucial role for C12ORF40/REDIC1 in meiotic crossover formation by stabilizing the recombination intermediates, providing prospective molecular targets for the clinical diagnosis and therapy of infertility. - Source: PubMed
Publication date: 2023/08/23
Fan SuixingWang YuewenJiang HanweiJiang XiaohuaZhou JiantengJiao YuyingYe JingweiXu ZishuoWang YueXie XuefengZhang HuanLi YangLiu WeiZhang XiangjunMa HuiShi BaoluZhang YuanweiZubair MuhammadShah WasimXu ZhipengXu BoShi Qinghua - - Source: PubMed
Publication date: 2023/08/22
Tu ChaofengWen JunfeiWang WeiliZhu QifanChen YingCheng JiangluLi ZeyeMeng LanlanLi YongHe WenbinTan ChenXie ChunboFu Shao-MeiDu JuanLu GuangxiuLin GeGou Lan-TaoTan Yue-Qiu - This study aims to identify several RNA transcripts associated with the prognosis of kidney renal clear cell carcinoma (KIRC). - Source: PubMed
Publication date: 2020/10/15
Yang QiweiChu WeiweiYang WeiCheng YanqiongChu ChuanminPan XiuwuYe JianqingCao JianweiGan SishunCui Xingang