SLC51A solute carrier family 51 member A
Gene ID: 200931, updated on 18-Sep-2024Gene type: protein coding
Also known as: OSTA; PFIC6; SLC51A1; OSTalpha
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC51A
- Go to Variation Viewer for SLC51A variants
Summary
Predicted to enable protein heterodimerization activity; protein homodimerization activity; and transmembrane transporter activity. Involved in bile acid secretion. Located in basolateral plasma membrane. Implicated in progressive familial intrahepatic cholestasis. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| An atlas of genetic influences on human blood metabolites. GeneReviews: Not available | |
| Cholestasis, progressive familial intrahepatic, 6 | not available |
Genomic context
- Location:
- 3q29
- Sequence:
- Chromosome: 3; NC_000003.12 (196216534..196233427)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC51A variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- 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
- Variation ViewerRelated Variants
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