BAAT Chromosome 9
Bile acid-CoA:amino acid N-acyltransferase
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What This Gene Does
The protein encoded by this gene is a liver enzyme that catalyzes the transfer of C24 bile acids from the acyl-CoA thioester to either glycine or taurine, the second step in the formation of bile acid-amino acid conjugates. The bile acid conjugates then act as a detergent in the gastrointestinal tract, which enhances lipid and fat-soluble vitamin absorption. Defects in this gene are a cause of familial hypercholanemia (FHCA). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Associated Conditions (4)
BAAT-related disorder
Hypercholanemia
familial 1
Bile acid conjugation defect 1
Key Variants
RS113673597
Conflicting classifications of pathogenicity
BAAT-related disorder, BAAT-related disorder
Health Risk
RS138094960
Conflicting classifications of pathogenicity
Health Risk
RS139829321
Conflicting classifications of pathogenicity
Hypercholanemia, familial 1, BAAT-related disorder
Health Risk
RS141722672
Conflicting classifications of pathogenicity
Bile acid conjugation defect 1, BAAT-related disorder, Bile acid conjugation defect 1
Health Risk
RS149369902
Conflicting classifications of pathogenicity
BAAT-related disorder, BAAT-related disorder
Health Risk
RS377631387
Conflicting classifications of pathogenicity
Health Risk
RS539433580
Conflicting classifications of pathogenicity
Health Risk
RS760488689
Conflicting classifications of pathogenicity
Health Risk
RS1829935083
Pathogenic
Bile acid conjugation defect 1, Bile acid conjugation defect 1
Health Risk
RS2119013151
Pathogenic
Bile acid conjugation defect 1, Bile acid conjugation defect 1
Health Risk
RS28937579
Pathogenic
Bile acid conjugation defect 1, Bile acid conjugation defect 1
Health Risk
RS369808582
Pathogenic
Bile acid conjugation defect 1, Bile acid conjugation defect 1
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113673597 | Health Risk | Conflicting classifications of pathogenicity | BAAT-related disorder, BAAT-related disorder |
| RS138094960 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS139829321 | Health Risk | Conflicting classifications of pathogenicity | Hypercholanemia, familial 1, BAAT-related disorder |
| RS141722672 | Health Risk | Conflicting classifications of pathogenicity | Bile acid conjugation defect 1, BAAT-related disorder, Bile acid conjugation defect 1 |
| RS149369902 | Health Risk | Conflicting classifications of pathogenicity | BAAT-related disorder, BAAT-related disorder |
| RS377631387 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS539433580 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS760488689 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1829935083 | Health Risk | Pathogenic | Bile acid conjugation defect 1, Bile acid conjugation defect 1 |
| RS2119013151 | Health Risk | Pathogenic | Bile acid conjugation defect 1, Bile acid conjugation defect 1 |
| RS28937579 | Health Risk | Pathogenic | Bile acid conjugation defect 1, Bile acid conjugation defect 1 |
| RS369808582 | Health Risk | Pathogenic | Bile acid conjugation defect 1, Bile acid conjugation defect 1 |
| RS758476278 | Health Risk | Pathogenic | Bile acid conjugation defect 1, Bile acid conjugation defect 1 |