SLCO1B7
Chr 12solute carrier organic anion transporter family member 1B7 (putative)
Also known as: LST-3, LST-3TM12, LST3, OATP1B7, SLC21A21
The protein functions as a bile acid and organic anion transporter located in the basolateral plasma membrane. Currently, no pediatric neurological diseases have been definitively associated with mutations in this gene based on available clinical data. The gene shows very low constraint against loss-of-function variants, suggesting that complete loss of function may be well tolerated.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SLCO1B7 · 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