SLC25A19
Chr 17ARsolute carrier family 25 member 19
Also known as: DNC, MCPHA, MTPPT, MUP1, THMD3, THMD4, TPC
This gene encodes a mitochondrial transporter that mediates uptake of thiamine diphosphate (thiamine pyrophosphate) into mitochondria. Mutations cause autosomal recessive disorders including microcephaly, Amish type (characterized by severe congenital microcephaly, 2-ketoglutaric aciduria, and death within the first year) and thiamine metabolism dysfunction syndrome 4 with progressive polyneuropathy. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.524), reflecting its essential role in mitochondrial thiamine metabolism.
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
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
231 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 | 1 | 10 | 11 | 0 | 22 |
Likely Pathogenic | 0 | 3 | 1 | 0 | 4 |
VUS | 2 | 70 | 23 | 0 | 95 |
Likely Benign | 0 | 4 | 29 | 30 | 63 |
Benign | 0 | 0 | 26 | 2 | 28 |
Conflicting | — | 13 | |||
| Total | 3 | 87 | 90 | 32 | 225 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SLC25A19 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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