SLC35D1
Chr 1ARsolute carrier family 35 member D1
Also known as: SHNKND, UGTREL7
This protein functions as an antiporter that transports UDP-sugars (including UDP-GlcNAc, UDP-GalNAc, and UDP-GlcA) across the endoplasmic reticulum membrane, providing sugar donors essential for glycoprotein synthesis and chondroitin sulfate biosynthesis. Mutations cause Schneckenbecken dysplasia, a severe skeletal dysplasia affecting cartilage and bone development, with autosomal recessive inheritance. The gene shows tolerance to loss-of-function variants (low pLI), consistent with the recessive inheritance pattern observed clinically.
Primary Disease Associations & Inheritance
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
313 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 | 5 | 1 | 25 | 0 | 31 |
Likely Pathogenic | 3 | 1 | 4 | 0 | 8 |
VUS | 1 | 95 | 10 | 0 | 106 |
Likely Benign | 0 | 4 | 57 | 32 | 93 |
Benign | 0 | 1 | 47 | 1 | 49 |
Conflicting | — | 6 | |||
| Total | 9 | 102 | 143 | 33 | 293 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SLC35D1 · 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 →External Resources
Links to major genomics databases and tools