New hope in treating progressive familial intrahepatic cholestasis in children

Figure 1 Bile acid synthesis pathways. CYP7A1: Cytochrome P450 Family 7 Subfamily A Member 1 (Cholesterol 7α-hydroxylase; rate-limiting enzyme in the classic bile acid synthesis pathway); CYP8B1: Cytochrome P450 Family 8 Subfamily B Member 1 (Also called sterol 12α-hydroxylase; determines the ratio of cholic acid to chenodeoxycholic acid); CYP27A1: Cytochrome P450 Family 27 Subfamily A Member 1 (Sterol 27-hydroxylase; important for the alternative bile acid synthesis pathway); CYP7B1: Cytochrome P450 Family 7 Subfamily B Member 1 (Oxysterol 7α-hydroxylase; involved in the alternative pathway of bile acid synthesis); BACS: Bile Acid-Coenzyme A Synthase (Enzyme involved in bile acid conjugation); BAAT: Bile Acid-CoA: Amino Acid N-Acyltransferase (Conjugates bile acids with glycine or taurine); CA: Cholic Acid (Primary bile acid synthesized via the classic pathway); CDCA: Chenodeoxycholic Acid (Primary bile acid synthesized mainly via the alternative pathway).

Figure 2 Progressive familial intrahepatic cholestasis type 1. FIC1: Familial Intrahepatic Cholestasis 1 protein (functions as a flippase); PFIC: Progressive familial intrahepatic cholestasis.

Figure 3 Progressive familial intrahepatic cholestasis type 2. BSEP: Bile salt export pump; PFIC: Progressive familial intrahepatic cholestasis.

Figure 4 Progressive familial intrahepatic cholestasis type 3. MDR3: Multidrug resistance protein 3; PFIC: Progressive familial intrahepatic cholestasis.

Figure 5 Progressive familial intrahepatic cholestasis 4. TJP2: Tight junction protein 2; PFIC: Progressive familial intrahepatic cholestasis.

Figure 6 Progressive familial intrahepatic cholestasis type 5. FXR: Farnesoid X receptor; BSEP: Bile salt export pump; PFIC: Progressive familial intrahepatic cholestasis.

Figure 7 Progressive familial intrahepatic cholestasis type 6. OSTα: Organic solute transporter alpha; OSTβ: Organic solute transporter beta; PFIC: Progressive familial intrahepatic cholestasis.

Figure 8 Progressive familial intrahepatic cholestasis type 7. USP53: Ubiquitin-specific peptidase 53; PFIC: Progressive familial intrahepatic cholestasis.

Figure 9 Progressive familial intrahepatic cholestasis type 8. KIF12: Kinesin family member 12; MRP2: Multidrug resistance-associated protein 2; ZO1: Zona occludens protein 1; BSEP: Bile salt export pump; PFIC: Progressive familial intrahepatic cholestasis.

Figure 10  Progressive familial intrahepatic cholestasis type 9. ZFYVE19: Zinc finger FYVE-type containing 19; BSEP: Bile salt export pump; PFIC: Progressive familial intrahepatic cholestasis.

Figure 11  Progressive familial intrahepatic cholestasis type 10. MYO5B: Myosin 5B; BSEP: Bile salt export pump; PFIC: Progressive familial intrahepatic cholestasis.

Figure 12  Progressive familial intrahepatic cholestasis type 11. BSEP: Bile salt export pump; MRP2: Multidrug resistance-associated protein 2; PKC pathway: Protein kinase C pathway; PFIC: Progressive familial intrahepatic cholestasis.

Figure 13  Progressive familial intrahepatic cholestasis type 12. VPS33B: Vacuolar protein sorting 33B; BSEP: Bile salt export pump; MRP2: Multidrug resistance-associated protein 2; PFIC: Progressive familial intrahepatic cholestasis.

Figure 14  Progressive familial intrahepatic cholestasis type 13. PSKH1: Protein serine kinase H1; PFIC: Progressive familial intrahepatic cholestasis.