BAAT - bile acid-CoA:amino acid N-acyltransferase Gene

Homo sapiens

Also known as BAT; HCHO; BACAT; BACD1

Gene ID: 570 | Gene type: protein coding

About BAAT

Cytogenetic location: 9q31.1 Genomic coordinates (GRCh38): 9:101,360,417-101,385,006 (from NCBI)

This gene has 5 transcripts (splice variants), 1 gene allele, 372 orthologues, 4 paralogues and is associated with 2 phenotypes. Restricted expression toward liver (RPKM 152.3).

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]

BAAT Products(3)

mRNA	Protein	Name
NM_001127610.2	NP_001121082.1	bile acid-CoA:amino acid N-acyltransferase
NM_001374715.1	NP_001361644.1	bile acid-CoA:amino acid N-acyltransferase
NM_001701.4	NP_001692.1	bile acid-CoA:amino acid N-acyltransferase

BAAT Protein Structure

Bile_Hydr_Trans

BAAT_C

0
100
200
300
418 a.a.

Protein Preferred Names

Protein Names

bile acid-CoA:amino acid N-acyltransferase

bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)

Related Diseases

Diseases

Alias

Bile Acid Conjugation Defect 1

BACD1

Familial Hypercholanemia

Hypercholanemia, Familial

Hereditary Hypercholanemia

Cholestasis, Benign Recurrent Intrahepatic, 1

Benign Recurrent Intrahepatic Cholestasis	BRIC1
Summerskill Syndrome	Bric
Summerskill-Walshe-Tygstrup Syndrome	Cholestasis, Benign Recurrent Intrahepatic
Benign Recurrent Intrahepatic Cholestasis 1	Benign Recurrent Intrahepatic Cholestasis Type 1
Bric Type 1	Low Gamma-Gt Familial Intrahepatic Cholestasis
Recurrent Familial Intrahepatic Cholestasis	Cholestasis, Benign Recurrent Intrahepatic 1
Mild Atp8b1 Deficiency	Recurrent Familial Intrahepatic Cholestasis 1
Abcb11-Related Intrahepatic Cholestasis	Atp8b1-Related Intrahepatic Cholestasis
Cholestasis, Intrahepatic, Recurrent, Benign, Type 1	Progressive Intrahepatic Cholestasis
Cholestasis, Progressive Familial Intrahepatic 3	Bric - [Benign Recurrent Intrahepatic Cholestasis]

Bile Acid Synthesis Defect, Congenital, 3

Congenital Bile Acid Synthesis Defect 3	CBAS3
Oxysterol 7-Alpha-Hydroxylase Deficiency	Congenital Bile Acid Synthesis Defect Type 3
Basd3	Bile Acid Synthesis Defect, Congenital, Type 3

Exhibitionism

Progressive Familial Intrahepatic Cholestasis

Abcb4-Related Intrahepatic Cholestasis	Cholestasis, Progressive Familial Intrahepatic
Pfic	Byler Disease
Abcb11-Related Intrahepatic Cholestasis	Atp8b1-Related Intrahepatic Cholestasis
Bsep Deficiency	Byler Disease
Byler Syndrome	Fic1 Deficiency
Low Γ-Gt Familial Intrahepatic Cholestasis	Mdr3 Deficiency
Pfic	Cholestasis, Intrahepatic, Familial, Progressive
Pfic - [Progressive Familial Intrahepatic Cholestasis]

Cholestasis, Progressive Familial Intrahepatic, 1

PFIC1	Byler Disease
Cholestasis, Progressive Familial Intrahepatic 1	Progressive Familial Intrahepatic Cholestasis 1
Progressive Familial Intrahepatic Cholestasis Type 1	Fic1 Deficiency
Byler'S Disease	Cholestasis, Fatal Intrahepatic
Progressive Familial Intrahepatic Cholestasis	Severe Atp8b1 Deficiency
Fatal Intrahepatic Cholestasis	Cholestasis, Intrahepatic, Familial, Progressive, Type 1
Progressive Intrahepatic Cholestasis	Cholestasis, Progressive Familial Intrahepatic 3

Intrahepatic Cholestasis Of Pregnancy

Recurrent Intrahepatic Cholestasis Of Pregnancy	Gravidic Intrahepatic Cholestasis
Pregnancy-Related Cholestasis	Icp
Pregnancy Related Cholestasis	Cholestasis, Intrahepatic Of Pregnancy
Familial Intrahepatic Cholestasis Of Pregnancy	Familial Recurrent Intrahepatic Cholestasis Of Pregnancy
Ricp	Obstetric Cholestasis

Zellweger Syndrome

Cerebrohepatorenal Syndrome	Zellweger Leukodystrophy
Zs	Congenital Iron Overload
Chr	Zws
Severe Pbd-Zsd	Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01330	BAAT Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	BAAT	VGNC	VGNC:56064
Mus musculus	BAAT	MGD	MGI:106642
Macaca mulatta	BAAT	VGNC	VGNC:104878
Rattus norvegicus	BAAT	RGD	RGD:2190