SLC75A1
Chr 4solute carrier family 75 member 1
Also known as: MFSD10, TETRAN, TETTRAN
The protein functions as an organic anion transporter that facilitates efflux of compounds including non-steroidal anti-inflammatory drugs across renal proximal tubule membranes during urinary excretion. Mutations in this gene have been associated with autosomal recessive developmental and epileptic encephalopathy with microcephaly. The condition involves the nervous system with early-onset seizures and developmental delays.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SLC75A1?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
163 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 120 |
Likely Pathogenic | — | — | — | — | 4 |
VUS | — | — | — | — | 16 |
Likely Benign | — | — | — | — | 2 |
Benign | — | — | — | — | 0 |
| Total | — | 142 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SLC75A1 · 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 publications found for SLC75A1
External Resources
Links to major genomics databases and tools