BAAT Gene - Bile Acid-CoA: Amino Acid N-Acyltransferase
Key enzyme in bile acid conjugation and lipid metabolism
Gene Information Card
| Symbol | BAAT |
|---|---|
| Full Name | Bile Acid-CoA: Amino Acid N-Acyltransferase |
| Gene Type | Protein coding |
| Chromosomal Location | 9q31.1 |
| NCBI Gene ID | 570 ncbi.nlm.nih.gov/gene/570 |
| Ensembl ID | ENSG00000136881 |
| UniProt ID | Q14032 |
| OMIM ID | 602938 |
| HGNC ID | 931 |
| Aliases | BAT, BACAT, BAAT1 |
Description
The BAAT gene encodes bile acid-CoA:amino acid N-acyltransferase, a liver-specific enzyme that catalyzes the conjugation of bile acids with glycine or taurine, a critical step in bile acid metabolism. This conjugation increases bile acid solubility and facilitates their secretion into bile, aiding in fat digestion and absorption. Mutations in BAAT are associated with familial hypercholanemia and other bile acid metabolism disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Familial hypercholanemia | Impaired bile acid conjugation due to BAAT deficiency leads to elevated serum bile acids | OMIM #607748; ClinVar |
| Cholestasis | Reduced BAAT activity disrupts bile flow, causing intrahepatic cholestasis | PubMed; OMIM |
| Hypertriglyceridemia | Altered bile acid metabolism may contribute to lipid abnormalities | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 58.2 | High |
| Gallbladder | 12.1 | Medium |
| Small intestine | 4.5 | Low |
| Kidney | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 32.5 | Hepatocellular carcinoma cell line |
| Huh-7 | 28.9 | Hepatoma cell line |
| HEK293 | 0.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.226G>A (p.Gly76Arg) | Missense | Rare | Reduced enzyme activity; associated with hypercholanemia |
| c.587C>T (p.Pro196Leu) | Missense | Rare | Impaired bile acid conjugation |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Gly76Arg, p.Pro196Leu) reduce or abolish enzymatic activity, leading to bile acid conjugation defects.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; BAAT deficiency is typically autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • acyltransferase activity (GO:0016746) | • bile acid binding (GO:0015643) |
| • bile acid metabolic process (GO:0008203) | • cytoplasm (GO:0005737) |
| • peroxisomal matrix (GO:0005782) |
Pathways
• Bile acid biosynthesis (Reactome: R-HSA-193368)
• Bile acid and bile salt metabolism (KEGG: hsa00120)
Protein Summary
Bile acid-CoA:amino acid N-acyltransferase (BAAT) is a 418-amino acid protein localized to the cytoplasm and peroxisomes. It catalyzes the conjugation of bile acids with glycine or taurine, essential for bile formation and lipid digestion. The enzyme is highly expressed in the liver and belongs to the acyltransferase family. Structural studies reveal a catalytic triad (Cys, His, Asp) critical for activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BAAT Knockout HEK293 Cell Line | EDJ-KQ4118 | Human | 570 | Details Get a Quote |
| BAAT Knockout A-549 Cell Line | EDJ-KQ26517 | Human | 570 | Details Get a Quote |
| BAAT Knockout HeLa Cell Line | EDJ-KQ52704 | Human | 570 | Details Get a Quote |
| BAAT Knockout HCT 116 Cell Line | EDJ-KQ69663 | Human | 570 | Details Get a Quote |
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