Ask about this productRelated genes to: KCTD19 antibody
- Gene:
- KCTD19 NIH gene
- Name:
- potassium channel tetramerization domain containing 19
- Previous symbol:
- -
- Synonyms:
- FLJ40162
- Chromosome:
- 16q22.1
- Locus Type:
- gene with protein product
- Date approved:
- 2005-02-08
- Date modifiied:
- 2018-11-16
Related products to: KCTD19 antibody
Related articles to: KCTD19 antibody
- The genetic etiology of non-obstructive azoospermia (NOA) characterized by maturation arrest (MA) remains incompletely understood. A homozygous nonsense variant (c.119G>A, p.W40X) in KCTD19 was identified in two unrelated probands with NOA. This variant disrupts the evolutionarily conserved BTB domain and leads to the absence of the KCTD19 protein. Histological analysis revealed a complete absence of post-meiotic germ cells in the probands' testes, with spermatogenesis progressed into late prophase I (at least to the zygotene stage) but failed to complete meiotic division. Our findings demonstrate that bi-allelic loss-of-function variants in the meiotic gene KCTD19 cause complete MA. This study highlights an indispensable role of KCTD19 in meiotic prophase I, and expands the genetic spectrum underlying male infertility. - Source: PubMed
Publication date: 2025/11/12
Zhang YuxiangLi PeiyongWang JianLi PengSha YanweiYu Zhe - One of the main challenges in Type 1 diabetes mellitus (T1DM) research is the sample size of the participants and the invasive process of collecting an adequate number of blood samples from young patients with T1DM. Therefore, it is of great interest to investigate the possibility of using saliva as a non-invasive tool to investigate the genetic factors that are associated with T1DM comorbidities. The present study aims to identify differentially expressed genes (DEGs) in saliva samples of T1DM patients with various comorbidities using transcriptomic profiling. - Source: PubMed
Publication date: 2025/10/10
Mussa Bashair MSrivastava AnkitaRajan ReejaVenkatachalam ThenmozhiAl-Habshi AbeerAbdelgadir ElaminBashier AlaaeldinAl Awadi FatheyaHafidh KhadijaHamoudi RifatAbusnana Salah - To explore the immunological mechanisms underlying spermatogenetic malfunction in patients with non-obstructive azoospermia (NOA) based on bioinformatics and machine learning, and to screen out the key genes associated with spermatogenesis failure. - Source: PubMed
Huang Shu-QiangLi Zhi-HongTan Cui-YuChen Miao-QiYuan Xiao-JunChen Wan-RuYang Luo-YaoFeng Xu-NuoChen Cai-RongYan Qiu-Xia - Non-obstructive azoospermia (NOA) represents the severe form of male infertility, affecting approximately 1% of men during their reproductive years. It is marked by the absence of sperm production caused by testicular dysfunction and has many genetic origins. However, the genetic factors underlying most NOA cases are still unclear. Meiosis, a crucial process ensuring accurate chromosome segregation and generating genetic diversity in gametes, is susceptible to genetic disruptions that may result in NOA. In this study, whole exome sequencing (WES) was conducted on 969 NOA patients, identifying six compound heterozygous KCTD19 variants in three Chinese pedigrees. KCTD19 has been demonstrated to interact with ZFP541 and HDAC1, thereby participating in the modulation of chromatin remodeling and transcriptional programs during meiosis in mice. Herein, our findings expand the phenotypic and mutational spectrum of KCTD19 in male infertility and provide further insights into its role during meiosis. This research underscores the importance of KCTD19 in meiotic progression and male fertility, highlighting the need for further investigation into the molecular mechanisms underlying gametogenic failure in NOA. - Source: PubMed
Publication date: 2025/05/23
Xu ShuaiZhang ChenwangYao ChenchengNi WanzeQian DeweiMeng ZizhouSun YifanDeng CunzhongBai FurongZhang JianxiongLi PengHuang YuhuaZhou ZhiLi ZhengLi NaZhang Yuxiang - A 40-year-old Japanese man with nonobstructive azoospermia (NOA) was found to carry rare variants in a newly identified causative gene for spermatogenic failure. This patient was identified through mutation screening of in 97 men with etiology-unknown isolated NOA. - Source: PubMed
Publication date: 2024/09/24
Muranishi YukiKatoh-Fukui YukoHattori AtsushiKobori YoshitomoOsaka AkiyoshiOkada HiroshiIwahata ToshiyukiKon MasafumiShinohara NobuoFukami Maki