BAAT

Chr 9q31.1

bile acid-CoA:amino acid N-acyltransferase

Aliases:: BAT, BACAT
MANE:: ENST00000259407.7

OMIM: 602938 ↗NCBI: 570 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

BAAT · Q14032

v62025-08-01

Predicted Aligned Error matrix for BAAT — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

95.2/ 100

Very high

418 residues

Confidence breakdown

Very high(≥ 90)91%
Confident(70–90)6%
Low(50–70)2%
Very low(< 50)1%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Cholestasis
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Neonatal cholestasis
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
Cytopenias and congenital anaemias
BIALLELIC, autosomal or pseudoautosomal
Ketotic hypoglycaemia
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

hypercholanemia, familial 1
0.66
bile acid conjugation defect 1
0.65
hypercholanemia, familial
0.64
cholestasis
0.47
LCAT deficiency
0.06
Hyperlipoproteinemia type 1
0.06
retinitis pigmentosa
0.05
isolated aniridia
0.05
early-onset non-syndromic cataract
0.05
Leber congenital amaurosis
0.05

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Bile acid-CoA:amino acid N-acyltransferase

Catalyzes the amidation of bile acids (BAs) with the amino acids taurine and glycine (PubMed:12239217, PubMed:12810727, PubMed:2037576, PubMed:8034703). More than 95% of the BAs are N-acyl amidates with glycine and taurine (PubMed:8034703). Amidation of BAs in the liver with glycine or taurine prior to their excretion into bile is an important biochemical event in bile acid metabolism (PubMed:12810727). This conjugation (or amidation) plays several important biological roles in that it promotes the secretion of BAs and cholesterol into bile and increases the detergent properties of BAs in the intestine, which facilitates lipid and vitamin absorption (PubMed:12810727). May also act as an acyl-CoA thioesterase that regulates intracellular levels of free fatty acids (PubMed:12239217, PubMed:12810727, PubMed:8034703). In vitro, catalyzes the hydrolysis of long- and very long-chain saturated acyl-CoAs to the free fatty acid and coenzyme A (CoASH), and conjugates glycine to these acyl-CoAs (PubMed:12810727)