SLC35B2
Chr 6solute carrier family 35 member B2
Also known as: HLD26, PAPST1, SLL, UGTrel4
The SLC35B2 protein transports PAPS (3'-phosphoadenylyl sulfate) from the cytosol into the Golgi lumen, where it serves as the universal sulfate donor for sulfation of glycoproteins, proteoglycans, and glycolipids. Biallelic mutations cause autosomal recessive leukodystrophy, hypomyelinating, 26, with chondrodysplasia, affecting both the central nervous system and skeletal development. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.628).
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
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
SLC35B2 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools