abnormal bile salt homeostasis Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the processes involved in the maintenance of an internal equilibrium of the steroid salts derived from cholesterol in the liver, produced as bile acids and secreted in the biliary system as bile salts; these play an important role in the digestion and absorption of fats (Mammalian Phenotype Ontology, MP_0005365)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005365
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33 gene mutations causing the abnormal bile salt homeostasis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11
ABCC3 ATP-binding cassette, sub-family C (CFTR/MRP), member 3
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
CCKAR cholecystokinin A receptor
CD4 CD4 molecule
CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1
CYP8B1 cytochrome P450, family 8, subfamily B, polypeptide 1
FABP6 fatty acid binding protein 6, ileal
GCGR glucagon receptor
GPBAR1 G protein-coupled bile acid receptor 1
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
IFT88 intraflagellar transport 88
KLB klotho beta
MBOAT4 membrane bound O-acyltransferase domain containing 4
MIR122 microRNA 122
NCOA6 nuclear receptor coactivator 6
NR0B2 nuclear receptor subfamily 0, group B, member 2
NR1D1 nuclear receptor subfamily 1, group D, member 1
NR1H3 nuclear receptor subfamily 1, group H, member 3
NR1H4 nuclear receptor subfamily 1, group H, member 4
NR5A2 nuclear receptor subfamily 5, group A, member 2
PCSK9 proprotein convertase subtilisin/kexin type 9
PCTP phosphatidylcholine transfer protein
PEX1 peroxisomal biogenesis factor 1
PNLIP pancreatic lipase
SCP2 sterol carrier protein 2
SIK3 SIK family kinase 3
SLC10A2 solute carrier family 10 (sodium/bile acid cotransporter), member 2
SLC13A1 solute carrier family 13 (sodium/sulfate symporter), member 1
SLC51A solute carrier family 51, alpha subunit
STARD10 StAR-related lipid transfer (START) domain containing 10
TLR4 toll-like receptor 4