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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: A Case Report and Literature Review

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 Case Report: Acrodermatitis Enteropathica Resulting 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 Congenital Zinc Deficiency from Mutations of the SLC39A4 Gene 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 Clinical Presentation of Acrodermatitis Enteropathica: Case Report and Literature Review

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

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

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.

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