SLC35D4
Chr 18solute carrier family 35 member D4
Also known as: C18orf45, TMEM241, hVVT
The protein functions as a Golgi-localized UDP-N-acetylglucosamine transporter that transports UDP-GlcNAc into the Golgi lumen and contributes to lysosomal targeting of NPC2 through the mannose-6-phosphate modification pathway. Mutations cause autosomal recessive developmental and epileptic encephalopathy with early infantile onset. The condition involves severe neurological impairment with seizures beginning in infancy.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SLC35D4?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
59 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 30 | 0 | 30 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 8 | 2 | 0 | 10 |
Likely Benign | 0 | 0 | 0 | 0 | 0 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 8 | 33 | 0 | 41 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SLC35D4 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools