Search for a gene

* (*) mandatory field

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

  : Assessed

Additional information

Patient-centred resources for this gene

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.