ATP8B1 ATPase phospholipid transporting 8B1
Gene ID: 5205, updated on 2-Nov-2024Gene type: protein coding
Also known as: BRIC; FIC1; ICP1; PFIC; ATPIC; PFIC1
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- Go to complete Gene record for ATP8B1
- Go to Variation Viewer for ATP8B1 variants
Summary
This gene encodes a member of the P-type cation transport ATPase family, which belongs to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Mutations in this gene may result in progressive familial intrahepatic cholestasis type 1 and in benign recurrent intrahepatic cholestasis. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Benign recurrent intrahepatic cholestasis type 1 MedGen: C4551899OMIM: 243300GeneReviews: ATP8B1 Deficiency, Pediatric Genetic Cholestatic Liver Disease Overview | See labs |
| Cholestasis, intrahepatic, of pregnancy, 1 | See labs |
| Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study. GeneReviews: Not available | |
| Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids. GeneReviews: Not available | |
| Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. GeneReviews: Not available | |
| Genome-wide association study of generalized vitiligo in an isolated European founder population identifies SMOC2, in close proximity to IDDM8. GeneReviews: Not available | |
| Progressive familial intrahepatic cholestasis type 1 MedGen: C4551898OMIM: 211600GeneReviews: ATP8B1 Deficiency, Pediatric Genetic Cholestatic Liver Disease Overview | See labs |
Genomic context
- Location:
- 18q21.31
- Sequence:
- Chromosome: 18; NC_000018.10 (57646426..57803315, complement)
- Total number of exons:
- 32
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ATP8B1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CCHMC - Human Genetics Mutation Database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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