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HLD26
Chr 6ARsolute carrier family 35 member B2
Also known as: HLD26, PAPST1, SLL, UGTrel4
The SLC35B2 protein transports 3-prime-phosphoadenosine 5-prime-phosphosulfate (PAPS) from the cytosol into the Golgi lumen, where PAPS serves as a sulfate donor for sulfation of glycoproteins, proteoglycans, and glycolipids. Mutations cause hypomyelinating leukodystrophy 26 with chondrodysplasia, affecting both the central nervous system and skeletal development. Inheritance is autosomal recessive.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/HLD26?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
HLD26 · protein map & ClinVar variants
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3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
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External Resources
Links to major genomics databases and tools