ZC4H2

Last update 08 May 2025

Basic Info

Synonyms

HCA127, Hepatocellular carcinoma-associated antigen 127, KIAA1166

+ [6]

Introduction

Plays a role in interneurons differentiation (PubMed:26056227). Involved in neuronal development and in neuromuscular junction formation.

100 Clinical Results associated with ZC4H2

100 Translational Medicine associated with ZC4H2

0 Patents (Medical) associated with ZC4H2

Literatures (Medical) associated with ZC4H2

01 Apr 2025·Journal of Ethnopharmacology

Network pharmacology-based exploration of the mechanism of Wenweishu granule in treating chronic atrophic gastritis with spleen-stomach cold deficiency syndrome

Article

Author: Jiao, Zhiyong ; Xuan, Zihua ; Gui, Shuangying ; Jin, Cheng ; Jia, Xiaoyi ; Ruan, Qing ; Zheng, Jia ; Huang, Yuzhe ; Yang, Xinyu

ETHNOPHARMACOLOGICAL RELEVANCEWenweishu (WWS) is a traditional Chinese medicine compound formulated for chronic atrophic gastritis (CAG) treatment by warming the stomach and alleviating pain. However, its pharmacological mechanisms remain underexplored.AIM OF THE STUDYThis study investigated the therapeutic effects and potential mechanisms of WWS on CAG with spleen-stomach cold deficiency syndrome (SSCDS).METHODSTo achieve this, an SSCDS-CAG rat model and a human gastric mucosal epithelial cells (GES-1) cell model were established using multi-factor modeling and N-Methyl-N'-nitro-N-nitrosoguanidine (MNNG) induction, respectively. WWS's effects on gastric injury were evaluated through pathology, inflammation, serum biomarkers, and apoptosis. Additionally, MNNG's effects on GES-1 cells were analyzed. Network pharmacology, involving protein-protein interaction networks, GO/KEGG enrichment, and molecular docking, was employed to predict WWS's potential targets and mechanisms in SSCDS-CAG. Mechanistic insights were further validated using immunohistochemistry, quantitative reverse transcription polymerase chain reaction, and western blotting.RESULTSIn vivo results showed that WWS alleviated symptoms in SSCDS-CAG rats, lowering symptom scores and improving gastric histopathology. It modulated serum biomarkers and reduced inflammation and apoptosis in both in vivo and in vitro studies. Network pharmacology results revealed 263 overlapping targets between WWS and SSCDS-CAG, associated with apoptosis, inflammation, and the PI3K/AKT pathway. Molecular docking revealed strong binding affinity between the core target and active WWS components. In SSCDS-CAG rats and GES-1 cells, WWS inhibited PI3K/AKT phosphorylation, increased PTEN expression, and regulated Bcl-2, Bax, and cleaved caspase-3 levels.CONCLUSIONWWS reduces inflammation and apoptosis in multi-factor CAG rats and MNNG-induced GES-1 cells by modulating the PTEN/PI3K/AKT signaling pathway and apoptosis-related proteins.

01 Jan 2025·Clinical Pediatric Endocrinology

Wieacker–Wolff syndrome with hyperinsulinemic hypoglycemia successfully treated using diazoxide: A case report

Article

Author: Chiba, Yumiko ; Sato, Ayami ; Tanaka, Hiroyuki ; Kobayashi, Satoko ; Kakimoto, Yu ; Kosaki, Kenjiro ; Yamada, Mamiko ; Suzuki, Hisato ; Adachi, Natsuho

Wieacker-Wolff syndrome (WRWF) is an X-linked genetic disorder characterized by neuromusculoskeletal abnormalities caused by loss-of-function variants of the ZC4H2 gene. Here, we report the case of a male infant with WRWF manifesting as multiple joint contractures and congenital anomalies at birth. He underwent gastrostomy to treat the gastroesophageal reflux disease, which caused mixed apnea and transient bradycardia. The patient subsequently developed hyperinsulinemic hypoglycemia (HH) and was diagnosed with dumping syndrome. Although he underwent multiple treatments, including alpha-glucosidase inhibitors (α-GI) administration, he continued to exhibit HH with seizures and loss of consciousness. Whole-exome sequencing revealed a novel missense variant of ZC4H2 [NM_018684.4: c.557T>G, p.(Met186Arg)] at Xq11.2 in both the patient and his mother. Based on these results and clinical symptoms, the patient was diagnosed with WRWF. Although WRWF is not considered a major cause of HH, we regarded it as a related complication based on previous reports. Diazoxide treatment was initiated, and the hypoglycemic attacks resolved almost entirely without any notable side effects after 18 mo. To the best of our knowledge, this is the first report of WRWF-associated HH treated with low-dose diazoxide and α-GI. Therefore, diazoxide is recommended for the treatment of WRWF-associated HH.

01 Sep 2024·Pediatric Neurology

Genotype-Phenotype Correlations and Sex Differences in ZC4H2-Associated Rare Disorder

Article

Author: Bearden, David ; Paciorkowski, Alex ; Nguyen, Ashlie ; Sportiello, Kristen ; Peters, Sydney ; Mandalapu, Shreya ; Carrier, Ryan ; Dickinson, Carolyn

BACKGROUNDZC4H2-associated rare disorder (ZARD) is caused by pathogenic variations in the ZC4H2 gene on the X chromosome. This gene codes for a zinc finger protein involved in neural development. ZARD is characterized by highly variable symptoms, potentially influenced by the sex of the individual.METHODSThe ZC4H2-Associated Rare Disorder Natural History Study is a prospective natural history study conducted among individuals with ZARD that consists of standardized interviews, developmental assessments, and neurological examinations conducted every six months for two years. In this article, we present data from baseline visits with 40 participants, the largest ZARD cohort studied thus far, focusing on genotype-phenotype correlations and sex differences. Fisher exact, maximum likelihood χ², and Mann-Whitney tests were utilized.RESULTSMales tended to have maternally inherited ZC4H2 pathogenic variations, whereas females tended to have de novo variations (P < 0.001). Female participants were more likely to have contractures at birth (P < 0.01), arthrogryposis multiplex congenita (P < 0.001), spasticity on examination (P < 0.1), and lower limb muscle atrophy (P < 0.05). Male participants were more likely to have seizures (P < 0.1), intermittent pain (P < 0.01), severe vision impairment (P < 0.05), dysphagia for solids (P < 0.01), and generalized muscle atrophy (P < 0.05).CONCLUSIONSOur study suggests there is significant overlap in severity and range of symptoms between males and females, although several symptoms are more common in one sex than the other. Further analysis is needed to better understand how pathogenic variation type affects phenotype.

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ZC4H2

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