Last update 01 Nov 2024

ZC4H2

Last update 01 Nov 2024

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 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.

01 Jan 2024·International journal of medicinal mushrooms

Evidence for Regulation of Cordycepin Biosynthesis by Transcription Factors Krüppel-Like Factor 4 and Retinoid X Receptor Alpha in Caterpillar Medicinal Mushroom Cordyceps militaris (Ascomycetes).

Article

Author: Li, Xingjuan ; Gao, Bo ; Yang, Dongqing ; Vriesekoop, Frank ; Wang, Xiaojie ; Luo, Shuai ; Zhang, Yuning ; Jiang, Yaguang ; Li, Shuangshi ; Lao, Wenyan ; Yang, Guowei ; Zhang, Hucheng ; Deng, Lina ; Liu, Linying

Cordyceps militaris, Chinese traditional medicinal fungus, has many bioactive properties. Cordycepin (3'-deoxyadenosine) is a major bioactive component of C. militaris. Various methods can significantly elevate cordycepin production, which suggests a diverse set of metabolic regulatory mechanisms. Thus, we aimed to identify transcription factors that regulate cordycepin biosynthesis pathways. Transcriptome analysis of wild-type C. militaris, C. militaris GYS60, a cordycepin high-producing strain, and C. militaris GYS80, a low-producing strain, were used to measure expression and function of genes related to cordycepin biosynthesis. The transcriptome expression data were confirmed by quantitative real-time polymerase chain reaction. We identified 155 relevant transcription factors in 19 families that included Fork head/winged helix factors, other C4 zinc finger-type factors, C2H2 zinc finger factors, tryptophan cluster factors, nuclear receptors with C4 zinc fingers, homeodomain factors, and Rel homology region factors. Energy generation and amino acid conversion pathways were activated in GYS60 so that abundance of cordycepin precursors was increased. Genes and transcription factors for rate-limiting enzymes in these pathways were identified. Overexpression of two key transcription factors, Kruppel-like factor 4 (Klf4) and Retinoid X receptor alpha (Rxra), promoted high cordycepin production in GYS60. In GYS60, Klf4 and Rxra were responsible for upregulation of genes in cordycepin biosynthesis, namely an oxidoreductase, 3',5'-cyclic AMP phosphodiesterase, a transferase, and adenylate cyclase. Upregulation of these genes increased 3'-AMP content, thereby elevating cordycepin synthesis.

01 Jan 2024·The Tohoku Journal of Experimental Medicine

Treatment of <i>ZC4H2</i> Variant-Associated Spastic Paraplegia with Selective Dorsal Rhizotomy and Intensive Postoperative Rehabilitation: A Case Report

Article

Author: Inui, Takehiko ; Asato, Takashi ; Okubo, Yukimune ; Saijo, Naoya ; Inotani, Toshiki ; Haginoya, Kazuhiro ; Kinjo, Takeshi ; Takahashi, Yuko ; Tamiya, Gen ; Horaguchi, Akira ; Otomo, Misaki ; Kikuchi, Atsuo ; Ochiai, Tatsuhiro ; Yoshida, Ayuko ; Mizuno, Chika ; Komatsu, Shigemasa ; Suzuki, Makoto ; Morishita, Yuko ; Takayama, Jun

Selective dorsal rhizotomy (SDR) has been used to treat children with spastic cerebral palsy (CP), and its beneficial effect on quality of life and ambulation has been confirmed in long-term follow-up studies. However, the role of SDR in the treatment of spasticity in patients with hereditary spastic paraplegia (HSP) and related disorders is not well-established. Here, we report the first patient with the ZC4H2 variant who underwent SDR to treat spastic paraplegia. Abnormal gait was discovered during a regular checkup at the age of 3 years and 9 months, and she was diagnosed with spastic paraplegia. She was heterozygous for the ZC4H2 variant and underwent SDR at the age of 5 years and 11 months, which alleviated the spasticity. The patient underwent inpatient postoperative rehabilitation for 4 months and continued outpatient physiotherapy after discharge. The Gross Motor Function Measure-88 score and maximum walking speed decreased transiently 1 month postoperatively, but gradually recovered, and continuously improved 6 months postoperatively. SDR and postoperative intensive rehabilitation were effective in improving motor and walking functions up to 6 months after surgery, although long-term follow-up is needed to draw conclusions.

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ZC4H2

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