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ATP8B1 - ATPase phospholipid transporting 8B1
- Synonym(s) : ATPIC, PFIC
- Previous symbols and names : 'ATPase, class I, type 8B, member 1', ATPase, Class I, type 8B, member 1, ATPase, aminophospholipid transporter, class I, type 8B, member 1, BRIC, FIC1, PFIC1
- Type : gene with protein product
- Chromosomal location : 18q21.31
- OMIM: 602397
- HGNC: 3706
- UniProtKB: O43520
- Genatlas: ATP8B1
- GenCC: ATP8B1
- Ensembl: ENSG00000081923
- IUPHAR-DB: 856
- Reactome: O43520
- LOVD: ATP8B1
Diseases list
- Disease-causing germline mutation(s) in Benign recurrent intrahepatic cholestasis type 1
ORPHA:99960 
- Disease-causing germline mutation(s) in Progressive familial intrahepatic cholestasis type 1
ORPHA:79306 - Major susceptibility factor in Intrahepatic cholestasis of pregnancy
ORPHA:69665
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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