Previous symbols: BSEP, PFIC2. Aliases: ABC16, SPGP, PFIC-2, PGY4.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Intrahepatic Cholestasis of Pregnancy | susceptibility germline |
mechanism: Genetic and Hormonal Susceptibility of Hepatobiliary Transport
|
| Progressive Familial Intrahepatic Cholestasis | causative germline |
mechanism: BSEP-Mediated Bile Salt Export Failure; Canalicular Bile Formation Defect
subtype: PFIC2
animal model: Abcb11-/- (BSEP knockout) mouse
scoped to subtype: PFIC2
|
| Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome | no genetic record |
mechanism: Disrupted RAB11A-Dependent Apical Recycling and Cargo Sorting
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.