SLC17A5
Chr 6ARsolute carrier family 17 member 5
Also known as: AST, ISSD, NSD, SD, SIALIN, SIASD, SLD, VEAT
This gene encodes a lysosomal membrane transporter that exports free sialic acid from lysosomes after it has been cleaved from cell surface glycoproteins and glycolipids. Biallelic loss-of-function mutations cause autosomal recessive sialic acid storage diseases, including the severe infantile form (infantile sialic acid storage disorder) and the milder adult-onset Salla disease. The pathogenic mechanism involves defective sialic acid transport leading to lysosomal accumulation of free sialic acid.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
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
SLC17A5 · 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
External Resources
Links to major genomics databases and tools