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GlossarySLC39A4 gene

gene involved in zinc absorption and related deficiencies

The SLC39A4 gene provides instructions for making a protein that is essential for the absorption of zinc from the diet. Zinc is a crucial mineral for various bodily functions, including immune response and wound healing. Mutations in this gene can lead to zinc deficiency, which can cause conditions like acrodermatitis enteropathica, characterized by skin lesions, hair loss, and diarrhea.

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Analysis of the Relationship Between the Mutation Site of the SLC39A4 Gene and Acrodermatitis Enteropathica: A Case Report and Literature Review

research Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature

11 citations , January 2020 in “BMC pediatrics”

New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.

research Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi’s Varicelliform Eruption

November 2025 in “American Journal of Case Reports”

Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.

research Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation

November 2022 in “Frontiers in pediatrics”

A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.

research The ZIP7 Gene (Slc39a7) Encodes a Zinc Transporter Involved in Zinc Homeostasis of the Golgi Apparatus

195 citations , February 2005 in “Journal of biological chemistry/The Journal of biological chemistry”

The ZIP7 gene helps control zinc levels in cells by moving zinc from the Golgi apparatus to the cytoplasm.

research Congenital Zinc Deficiency from Mutations of theSLC39A4Gene as the Genetic Background of Acrodermatitis Enteropathica

16 citations , January 2010 in “Journal of Korean medical science/Journal of Korean Medical Science”

A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.

research Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature

6 citations , December 2015 in “International journal of immunopathology and pharmacology”

AE can have varied symptoms and genetic causes, but zinc therapy helps.

research Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review

October 2025 in “Frontiers in Medicine”

Zinc supplements improved symptoms in a Uyghur infant with a rare genetic disorder affecting zinc absorption.

research Table 1_Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review.xlsx

October 2025 in “OPAL (Open@LaTrobe) (La Trobe University)”

Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica effectively.

research Table 2_Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review.xlsx

October 2025 in “OPAL (Open@LaTrobe) (La Trobe University)”

Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica in infants.

research Acrodermatitis enteropathica – a diagnostic challenge: case report of late-onset, genetically proven disease with normal zinc serum levels

1 citations , January 2025 in “Pediatria i Medycyna Rodzinna”

Accurate diagnosis and zinc supplements can improve life quality in acrodermatitis enteropathica, even with normal zinc levels.

Atypical Presentation of Acrodermatitis Enteropathica in a Child: Later Onset with Life-Threatening Severe Extensive Dermatitis and Septic Shock

research Atypical presentation of Acrodermatitis enteropathica in a child: later onset with life-threatening severe extensive dermatitis and septic shock

October 2025 in “BMC Pediatrics”

Timely zinc treatment is crucial for preventing severe complications in Acrodermatitis enteropathica.

research Inherited Acrodermatitis Enteropathica

April 2025 in “Indian Journal of Paediatric Dermatology”

Zinc supplements improved the girl's skin and hair condition.

research An Infant with Worsening Rash

March 2018 in “The journal of applied laboratory medicine”

The rash on the infant indicated a serious underlying condition.

research P78 Acrodermatitis enteropathica in children: clinical cases

June 2017

Zinc supplements and genetic analysis help treat acrodermatitis enteropathica in children.

research Acrodermatitis enteropathica – diagnostic challenges

February 2023 in “Research Square (Research Square)”

Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.

research The Role of the Slc39a Family of Zinc Transporters in Zinc Homeostasis in Skin

19 citations , February 2018 in “Nutrients”

Certain zinc transporters are essential for healthy skin and managing zinc in the body could help treat skin problems.

Wasabi Leaf Extract Changes the Expression Levels of Cytokine Related Genes in Dermal Papilla Cells, Identified by the Whole Transcriptome

research Wasabi leaf extract changes the expression levels of cytokine related genes in dermal papilla cells, which identified by the whole transcriptome

May 2025

Wasabi leaf extract affects gene expression in skin cells.

Transcriptional Profiling in Alopecia Areata Defines Immune and Cell Cycle Control Related Genes Within Disease-Specific Signatures

research Transcriptional profiling in alopecia areata defines immune and cell cycle control related genes within disease-specific signatures

61 citations , September 2010 in “Genomics”

The study found that immune responses disrupt hair growth cycles, causing hair loss in alopecia areata.

Generating Detailed Intercellular Communication Patterns in Psoriasis at the Single-Cell Level Using Social Networking, Pattern Recognition, and Manifold Learning Methods to Optimize Treatment Strategies

research Generating detailed intercellular communication patterns in psoriasis at the single-cell level using social networking, pattern recognition, and manifold learning methods to optimize treatment strategies

January 2024 in “Aging”

New insights into cell communication in psoriasis suggest innovative drug treatments.

research Genome-wide association study for cashmere traits in Inner Mongolia cashmere goat population reveals new candidate genes and haplotypes

13 citations , July 2024 in “BMC Genomics”

New genes and markers can help breed better cashmere goats.

research Deletion of adipocyte Sine Oculis Homeobox Homolog 1 prevents lipolysis and attenuates skin fibrosis

May 2024

Removing SIX1 in fat cells reduces skin fibrosis.

TNC+ Fibroblasts Involved in Skin Inflammation via Neuro-Immune Interactions with T Cells

research TNC+ fibroblasts involve in skin inflammation via neuro-immune and interacting with T cells

September 2023 in “Research Square (Research Square)”

TNC+ fibroblasts play a key role in skin inflammation by interacting with T cells.

Mutant Laboratory Mice With Abnormalities in Hair Follicle Morphogenesis, Cycling, and Structure: Annotated Tables

research Mutant laboratory mice with abnormalities in hair follicle morphogenesis, cycling, and/or structure: annotated tables

86 citations , December 2001 in “Experimental dermatology”

Mutant mice help researchers understand hair growth and related genetic factors.

Mutant Laboratory Mice With Abnormalities in Hair Follicle Morphogenesis, Cycling, and Structure: An Update

research Mutant laboratory mice with abnormalities in hair follicle morphogenesis, cycling, and/or structure: An update

52 citations , October 2012 in “Journal of Dermatological Science”

The document concludes that mouse models are crucial for studying hair biology and that all mutant mice may have hair growth abnormalities that require detailed analysis to identify.

research An Integrated Analysis of Cashmere Fineness lncRNAs in Cashmere Goats

26 citations , April 2019 in “Genes”

lncRNA XLOC_008679 and gene KRT35 affect cashmere fineness in goats.

research Regulatory pathway analysis of coat color genes in Mongolian horses

14 citations , September 2017 in “Hereditas”

Genes influence horse coat color and may help understand human skin conditions.

research Whole-genome resequencing to investigate the genetic diversity and the molecular basis underlying key economic traits in indigenous sheep breeds adapted to hypoxic environments

1 citations , July 2025 in “Frontiers in Veterinary Science”

Tibetan sheep have specific genes for high-altitude adaptation and wool traits, aiding breeding strategies.

research Analysis of histology and long noncoding RNAs involved in the rabbit hair follicle density using RNA sequencing

January 2021 in “Research Square (Research Square)”

Rabbits with high wool production have more hair follicles, influenced by specific long noncoding RNAs.

Analysis of Histology and Long Noncoding RNAs Involved in Rabbit Hair Follicle Density Using RNA Sequencing

research Analysis of Histology and Long Noncoding RNAs Involved in the Rabbit Hair Follicle Density using RNA Sequencing

September 2020 in “Research Square (Research Square)”

Long noncoding RNAs help regulate hair follicle density in rabbits.

research De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia

3 citations , May 2024 in “BMC Medical Genomics”

A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.