BAAT

GENE INFORMATION

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Gene name

BAAT (HGNC Symbol)

Synonyms

BAT

Description

Bile acid CoA:amino acid N-acyltransferase (HGNC Symbol)

Entrez gene 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]

Chromosome

9

Cytoband

q31.1

Chromosome location (bp)

101360417 - 101383519

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000136881 (version 78.38)

Entrez gene

570

UniProt

Q14032 (UniProt - Evidence at protein level)

neXtProt

NX_Q14032

Antibodypedia

BAAT antibodies
 

PROTEIN VIEW

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BAAT-001
 
BAAT-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

BAAT-001 ENSP00000378491
ENST00000395051
Q14032
Show all »
Show » Show » 418 46.3 No 0
BAAT-201 ENSP00000259407
ENST00000259407
Q14032
Show all »
Show » Show » 418 46.3 No 0