SLC35B2
Function
Probably functions as a 3'-phosphoadenylyl sulfate:adenosine 3',5'-bisphosphate antiporter at the Golgi membranes. Mediates the transport from the cytosol into the lumen of the Golgi of 3'-phosphoadenylyl sulfate/adenosine 3'-phospho 5'-phosphosulfate (PAPS), a universal sulfuryl donor for sulfation events that take place in that compartment.
Involvement in disease
Leukodystrophy, hypomyelinating, 26, with chondrodysplasia
HLD26
A form of hypomyelinating leukodystrophy, a group of heterogeneous disorders characterized by persistent deficit of myelin observed on brain imaging. HLD26 is an autosomal recessive form characterized by severe psychomotor delay, limited or absent speech, abnormal development of brain white matter, corpus callosum hypoplasia, and cerebral atrophy. Other features include pre- and postnatal growth retardation, chondrodysplasia, and early-onset scoliosis.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the nucleotide-sugar transporter family. SLC35B subfamily.
Tissue Specificity
Highly expressed in the placenta, pancreas, mammary gland and skeletal muscle. Weakly or not expressed in colon, heart and prostate (PubMed:12716889). Expressed in the brain, predominantly in frontal lobe gray matter, subcortical frontal white matter and cerebellum (PubMed:35325049).
Cellular localization
- Golgi apparatus membrane
- Multi-pass membrane protein
Alternative names
PAPST1, PSEC0149, SLC35B2, Adenosine 3'-phospho 5'-phosphosulfate transporter 1, PAPS transporter 1, Putative MAPK-activating protein PM15, Putative NF-kappa-B-activating protein 48, Solute carrier family 35 member B2