SLC39A4

Chr 8

solute carrier family 39 member 4

Also known as: AEZ, AWMS2, ZIP4

NCBI Gene: 55630 ENSG00000147804 UniProt: Q6P5W5

This protein functions as a selective zinc transporter that mediates zinc uptake in the intestinal tract, playing an essential role in dietary zinc absorption. Mutations cause acrodermatitis enteropathica, a disorder characterized by zinc deficiency affecting the skin, gastrointestinal system, and immune function. The condition follows autosomal recessive inheritance and typically presents in early infancy.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the zinc/iron-regulated transporter-like protein (ZIP) family. The encoded protein localizes to cell membranes and is required for zinc uptake in the intestine. Mutations in this gene result in acrodermatitis enteropathica. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtAcrodermatitis enteropathica, zinc-deficiency type

Clinical highlights

Gene-disease validity (ClinGen)

acrodermatitis enteropathica · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.70

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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