Ask about this productRelated genes to: TMEM67 antibody
- Gene:
- TMEM67 NIH gene
- Name:
- transmembrane protein 67
- Previous symbol:
- MKS3
- Synonyms:
- MGC26979, JBTS6, NPHP11
- Chromosome:
- 8q22.1
- Locus Type:
- gene with protein product
- Date approved:
- 2005-08-04
- Date modifiied:
- 2019-04-23
Related products to: TMEM67 antibody
Related articles to: TMEM67 antibody
- Joubert syndrome (JS) is a rare neurodevelopmental ciliopathy characterized by a distinctive midbrain-hindbrain malformation, manifested by hypotonia, ataxia, developmental delay, and variable multisystem involvement. The condition exhibits marked clinical and genetic heterogeneity, with over 40 genes implicated to date. However, the mutational spectrum and phenotypic presentation of JS in Middle Eastern populations, where consanguinity is prevalent, remain poorly characterized. - Source: PubMed
Publication date: 2026/08/02
Khalilian SheydaFathi MohadesehFarbood ZahraDehghanian FatemehMasoudi MarjanGhafouri-Fard SoudehDastgheib Seyed AlirezaMiryounesi Mohammad - Spermiogenesis dysfunction is a major cause of male infertility; however, the underlying molecular mechanisms involved remain incompletely elucidated. Although transmembrane protein 67 (TMEM67), a ciliary transition zone protein implicated in ciliopathies, is highly enriched in mouse testes, its cell type-specific functional relevance in spermatogenesis is unclear. Here, we generated germ cell-specific (Stra8-Tmem67) and Sertoli cell-specific (Amh-Tmem67) Tmem67 knockout mice to investigate the function of TMEM67 in spermatogenesis and male fertility. Amh-Tmem67 mice maintained normal fertility and exhibited normal spermatogenesis, with no significant differences in testicular histology or sperm count, morphology, or motility compared with wild-type (WT) controls. However, Stra8-Tmem67 males were completely infertile, manifesting severe oligoasthenoteratozoospermia (OAT) characterized by a drastic reduction in sperm count, total loss of sperm motility, and global sperm malformation. Further investigations revealed that TMEM67 deletion did not impair spermatogonial proliferation or meiosis, but instead disrupted key spermiogenic events, including manchette dynamics, acrosome biogenesis, and flagellum development. Proteomic analysis indicated that TMEM67 knockout altered the expression of numerous spermiogenesis-related proteins. Furthermore, our experiments confirmed that TMEM67 deficiency led to profound perturbations in both the expression levels and subcellular localization of key spermiogenic regulators in the testis. Collectively, our findings demonstrate that TMEM67 is indispensable for spermiogenesis and male fertility, revealing its critical role in coordinating manchette function, axonemal integrity, and spermiogenesis-related protein regulation, providing novel insights into OAT pathogenesis. - Source: PubMed
Wang BingzhengLing ShengjieSun WenxuePan LiuzhuZhang AizhenYe ChaoWang XianmeiWang HongxiangWang ZhihanZhang PeilongWu BinLiu MinGao JiangangWen Zongzhuang - Joubert syndrome (JS) is a rare autosomal recessive disorder belonging to the ciliopathies and can cause a series of neurological symptoms after birth. Prenatal diagnosis of this disease is rare, as the results from prenatal ultrasonography for JSRD are relatively nonspecific. Prenatal MRI is usually the preferred diagnostic method. On fetal MRI, it presents as a typical midbrain-hindbrain malformation characterized by the molar tooth sign (MTS). Currently, reports of prenatal MRI diagnosis for JS are rare, with no documented twin gestations. Herein, we report a case of JSRD in a twin pregnancy detected at the 25th gestational week through prenatal MRI, with a review of the etiology, imaging features, and differential diagnosis of JS. - Source: PubMed
Publication date: 2026/03/18
Ren SiluLi AitongYang JiyunZhou LeiLu Tao
- Source: PubMed
- : Tracheobronchopathia osteochondroplastica (TO) is a rare benign disorder characterized by submucosal cartilaginous and osseous nodules of the tracheobronchial tree, typically sparing the posterior membranous wall. Involvement of the vocal cords is exceedingly rare and may result in critical airway obstruction. The underlying genetic and molecular mechanisms of TO remain largely unexplored. : We report a rare case of TO extending from the vocal cords to the bronchi in a 76-year-old man who initially presented with pneumonia and later developed acute respiratory failure due to severe airway narrowing, necessitating emergency tracheostomy. Bronchoscopy and computed tomography revealed diffuse calcified nodules involving the anterior and lateral airway walls, including the subglottic region. Histopathology demonstrated chronic inflammatory cell infiltration with squamous metaplasia. To explore the molecular basis of this condition, whole-genome sequencing (WGS) was performed using peripheral blood samples-the first such application in TO. WGS identified 766 germline mutations (including 27 high-impact variants) and 66 structural variations. Candidate genes were implicated in coagulation and inflammation (), arachidonic acid metabolism and extracellular matrix remodeling (), ciliary dysfunction and mineralization (), vascular calcification (), smooth muscle function (), abnormal calcification (), fibrotic signaling (), and mucosal barrier integrity (). Notably, despite systemic germline mutations, calcification was restricted to the airway. : This case highlights that TO with vocal cord involvement can progress beyond a benign course to cause life-threatening airway obstruction. Integrating clinical, histological, and genomic findings, we propose a novel pathophysiological model in which systemic genetic susceptibility interacts with local immune cell infiltration and fibroblast-driven extracellular matrix remodeling, resulting in airway-restricted dystrophic calcification. This first genomic characterization of TO provides new insights into its pathogenesis and suggests that multi-omics approaches may enable future precision medicine strategies for this rare airway disease. - Source: PubMed
Publication date: 2026/01/09
Park YeonheeLee Joo-EunLim Mi JungKang Hyeong SeokChung Chaeuk