BAAT bile acid-CoA:amino acid N-acyltransferase
Gene ID: 570, updated on 10-Dec-2024Gene type: protein coding
Also known as: BAT; HCHO; BACAT; BACD1; FHCA3
- See all available tests in GTR for this gene
- Go to complete Gene record for BAAT
- Go to Variation Viewer for BAAT variants
Summary
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
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Bile acid conjugation defect 1 | See labs |
Genomic context
- Location:
- 9q31.1
- Sequence:
- Chromosome: 9; NC_000009.12 (101360417..101385006, complement)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for BAAT variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- BAAT database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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