SLC40A1 (Ferroportin) variants and mutations

SLC40A1 (also known as Ferroportin) is a human protein-coding gene encoding a ferroportin protein. It exports iron from enterocytes, macrophages, and hepatocytes into the circulation and is directly inhibited by hepcidin. Pathogenic variants cause ferroportin disease or hepcidin-resistant iron overload, depending on whether they impair export or hepcidin regulation. This analysis covers 946 SLC40A1 variants and mutations. Of these, 95% have computational variant effect predictions. Disease context includes hemochromatosis type 4, infantile epileptic encephalopathy, and restless legs syndrome. Example SLC40A1 variants include T2S, R3G, and R3K.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable SLC40A1 variants

Examples include T2S, R3G, R3K, A4T, A4V, G5E, D6N, N8S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.