SLC39A4

SLC39A4 is a human gene that encodes for the protein ZIP4, a member of the ZIP (Zrt-, Irt-like Protein) family of metal ion transporters. Mutations in this gene have been associated with Acrodermatitis enteropathica, a rare autosomal recessive disorder characterized by zinc deficiency, dermatitis, and diarrhea.

Function

The SLC39A4 gene provides instructions for making a protein that is essential for the absorption of zinc from the diet. This protein, known as ZIP4, is found in the outer membrane of cells in the small intestine, where it transports zinc from the outside of the cell to the inside. Once inside the cell, zinc can be used in many cellular processes.

Clinical significance

Mutations in the SLC39A4 gene cause acrodermatitis enteropathica. This condition is characterized by the inability to properly absorb zinc from the diet, leading to zinc deficiency. Symptoms of acrodermatitis enteropathica include severe skin inflammation, hair loss, diarrhea, and impaired immune function. The condition is typically treated with lifelong zinc supplementation.

See also

• SLC39A family
• Zinc transporter
• Acrodermatitis enteropathica

External links

• NCBI Gene
• Genetics Home Reference

SLC39A4 Resources
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