SLC35B2 Chromosome 6
Solute carrier family 35 member B2
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What This Gene Does
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]
Gene Info
Gene Group
"MicroRNA protein coding host genes|Solute carrier family 35"
Locus Type
gene with protein product
Location
6p21.1
Ensembl
ENSG00000157593
Associated Conditions (7)
Hypomyelinating leukodystrophy 11
Treacher Collins syndrome 3
Leukodystrophy
hypomyelinating
26
with chondrodysplasia
Primary bone dysplasia with multiple joint dislocations
Key Variants
RS868023411
Conflicting classifications of pathogenicity
Hypomyelinating leukodystrophy 11, Treacher Collins syndrome 3, Hypomyelinating leukodystrophy 11
Health Risk
RS757164153
Pathogenic
Leukodystrophy, hypomyelinating, 26
Health Risk
RS760851221
Pathogenic
Primary bone dysplasia with multiple joint dislocations, Leukodystrophy, hypomyelinating
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS868023411 | Health Risk | Conflicting classifications of pathogenicity | Hypomyelinating leukodystrophy 11, Treacher Collins syndrome 3, Hypomyelinating leukodystrophy 11 |
| RS757164153 | Health Risk | Pathogenic | Leukodystrophy, hypomyelinating, 26 |
| RS760851221 | Health Risk | Pathogenic | Primary bone dysplasia with multiple joint dislocations, Leukodystrophy, hypomyelinating |