Bile Acid CoA:Amino Acid N-Acyltransferase

Alternative Names

  • BAAT
  • BACAT
  • BAT
  • Glycine N-Choloyltransferase
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OMIM Number

602938

NCBI Gene ID

570

Uniprot ID

Q14032

Length

24,590 bases

No. of Exons

6

Protein Name

Bile acid-CoA:amino acid N-acyltransferase

Molecular Mass

46299 Da

Amino Acid Count

418

Genomic Location

chr9:101,360,417-101,385,006

Gene Map Locus
9q31.1

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001701.4:c.1156G>ASaudi ArabiaNC_000009.12:g.101362529C>TPathogenicPathogenicBile Acid Conjugation Defect 1NG_009774.1:g.27477G>A; NM_001701.4:c.1156G>A; NP_001692.1:p.Gly386Arg1048532
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