SLC35B2

Chr 6

solute carrier family 35 member B2

Also known as: HLD26, PAPST1, SLL, UGTrel4

NCBI Gene: 347734 ENSG00000157593 UniProt: Q8TB61

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).

ResearchSummary from RefSeq, OMIM, UniProt

Sulfotransferases (e.g., SULT4A1; MIM 608359) use an activated form of sulfate, 3-prime-phosphoadenosine 5-prime-phosphosulfate (PAPS), as a common sulfate donor for sulfation of glycoproteins, proteoglycans, and glycolipids in the endoplasmic reticulum and Golgi apparatus. SLC35B2 is located in the microsomal membrane and transports PAPS from the cytosol, where it is synthesized, into the Golgi lumen (Kamiyama et al., 2003 [PubMed 12716889]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtLeukodystrophy, hypomyelinating, 26, with chondrodysplasia

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.63

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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