{"title":"Zinc Transporter Gene Variants (SLC30A and SLC39A) in Human Disease: From Metal Homeostasis Disruption to Convergent Signaling Pathways","authors":"Bo Sun, Jing Ma, Xiaohong Bai, Shusong Wang","doi":"10.1155/humu/8829745","DOIUrl":null,"url":null,"abstract":"<p>Zinc, an indispensable trace element, performs critical functions in human physiology. As a versatile cofactor, zinc participates in over 1000 enzymatic reactions and regulates more than 2000 transcription factors, orchestrating diverse cellular signaling pathways. The transmembrane transport of zinc is mediated by specialized transporter proteins, which are categorized into two families: zinc transporters (ZnTs) and Zrt- and Irt-like proteins (ZIPs). These transporters are pivotal for maintaining cellular and systemic zinc homeostasis. Pathogenic variants in ZnT/ZIP genes are associated with a spectrum of severe human diseases. This review systematically examines the pathophysiological connections between ZnT/ZIP gene variants and human diseases, providing a conceptual framework for future mechanistic investigations.</p>","PeriodicalId":13061,"journal":{"name":"Human Mutation","volume":"2026 1","pages":""},"PeriodicalIF":1.8000,"publicationDate":"2026-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13621333/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Human Mutation","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1155/humu/8829745","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
Abstract
Zinc, an indispensable trace element, performs critical functions in human physiology. As a versatile cofactor, zinc participates in over 1000 enzymatic reactions and regulates more than 2000 transcription factors, orchestrating diverse cellular signaling pathways. The transmembrane transport of zinc is mediated by specialized transporter proteins, which are categorized into two families: zinc transporters (ZnTs) and Zrt- and Irt-like proteins (ZIPs). These transporters are pivotal for maintaining cellular and systemic zinc homeostasis. Pathogenic variants in ZnT/ZIP genes are associated with a spectrum of severe human diseases. This review systematically examines the pathophysiological connections between ZnT/ZIP gene variants and human diseases, providing a conceptual framework for future mechanistic investigations.
期刊介绍：
Human Mutation is a peer-reviewed journal that offers publication of original Research Articles, Methods, Mutation Updates, Reviews, Database Articles, Rapid Communications, and Letters on broad aspects of mutation research in humans. Reports of novel DNA variations and their phenotypic consequences, reports of SNPs demonstrated as valuable for genomic analysis, descriptions of new molecular detection methods, and novel approaches to clinical diagnosis are welcomed. Novel reports of gene organization at the genomic level, reported in the context of mutation investigation, may be considered. The journal provides a unique forum for the exchange of ideas, methods, and applications of interest to molecular, human, and medical geneticists in academic, industrial, and clinical research settings worldwide.
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