SLC35B2 solute carrier family 35 member B2
Gene ID: 347734, updated on 17-Sep-2024Gene type: protein coding
Also known as: SLL; HLD26; PAPST1; UGTrel4
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC35B2
- Go to Variation Viewer for SLC35B2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Leukodystrophy, hypomyelinating, 26, with chondrodysplasia | not available |
Genomic context
- Location:
- 6p21.1
- Sequence:
- Chromosome: 6; NC_000006.12 (44254101..44257890, complement)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC35B2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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