Ensembl is currently experiencing issues

The Ensembl REST API is temporarily unavailable. Some gene data (transcript details, protein domains) may be incomplete. Other data sources are unaffected.

You can check Ensembl's status at status.ensembl.org

HLD26

Chr 6AR

solute 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.

OMIMResearchSummary from RefSeq, OMIM
AR1 OMIM phenotype
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

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
CDG due to Defective Membrane Transporters: Update
Quelhas D et al.·J Inherit Metab Dis
2026
Top 2 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found