. Author manuscript; available in PMC: 2014 May 1.

Published in final edited form as: Gastroenterology. 2013 Jan 18;144(5):1107–1115.e3. doi: 10.1053/j.gastro.2013.01.022

Table 2.

Genes Associated With BA, Other Cholestatic Disorders, and Biliary Development

Gene (reference)	Function
Associated with BA
GPC1 (this report)	Proteoglycan
XPNPEP1⁶	Aminopeptidase
ADD3⁶	Actin-binding
JAG1³²	Cell fate determinant (Jagged/Notch)
CFC1³³	Left/right determinant
MIF³⁴	Cytokine
VEGF³⁵	Growth factor
ZEB2¹⁶	Transcription factor
HADHA³⁹	Metabolic enzyme
Genetic causes of cholestasis/bile duct morphogenetic defects
CIRH1A⁵⁴	Unknown
VIPAR⁴⁴VPS33B⁴⁵	Intracellular trafficking
PKHD1, BBS, MKS, NPHP, others^40,41	Cilia structure/function
CFTR⁴⁷	Chloride channel
SERPINA1⁴⁸	α1-antitrypsin
ATP8B1, ABCB11, ABCB4⁴⁹	Bile component transport
AKR1D1, CYP7B1, HSD3B7, others⁵⁰	Bile acid synthesis
Animal models of cholestasis/bile duct morphogenetic defects
ONECUT1⁴²	Onecut transcription factor
TCF2⁴³	Homeodomain transcription factor
FOXF1⁴⁶	Forkhead transcription factor
VPS genes^15,18,51	Intracellular trafficking
ATP6 genes⁵²	Intracompartmental pH
ENO1⁵³	Enolase A
INV⁷	Left/right determinant
DNMT1¹⁷	DNA methylation
PRICKLE1, VANGL2²⁷	Planar cell polarity

NOTE. The genes are divided into 3 categories. The first group shows genes identified by linkage studies, direct examination of the gene in patients with BA, or reports of patients with a known mutation also with BA. The second group has genes responsible for diseases with a hepatic or biliary phenotype, and the third group has genes that lead to hepatobiliary defects in animal models.