SLC39A8
Chr 4ARsolute carrier family 39 member 8
Also known as: BIGM103, CDG2N, LZT-Hs6, PP3105, ZIP8
This protein functions as a divalent metal cation transporter that mediates cellular uptake of zinc, manganese, and selenium, which are essential for development, tissue homeostasis, and immune function. Mutations cause congenital disorder of glycosylation type IIn, inherited in an autosomal recessive pattern. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.465), reflecting its importance in cellular metal homeostasis across multiple organ systems including the nervous system, immune system, and hepatobiliary tract.
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SLC39A8 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Role of Metal Ion Transporter ZIP8 in Alcohol-Related Behaviors
RECRUITINGClinical and Basic Investigations Into Congenital Disorders of Glycosylation
RECRUITINGOral N-acetylglucosamine in Crohn's Disease
NOT YET RECRUITINGExternal Resources
Links to major genomics databases and tools