BAAT
Chr 9ARbile acid-CoA:amino acid N-acyltransferase
Also known as: BACAT, BACD1, BAT, FHCA3, HCHO
BAAT encodes a liver enzyme that conjugates bile acids with glycine or taurine, which is essential for bile acid function as detergents that facilitate lipid and fat-soluble vitamin absorption in the intestine. Biallelic mutations cause familial hypercholanemia, characterized by elevated bile acid levels. This follows autosomal recessive inheritance and the gene is highly tolerant to loss-of-function variants (low constraint).
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
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
BAAT · 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