SLC51A

Chr 3AR

solute carrier family 51 member A

Also known as: OSTA, OSTalpha, PFIC6, SLC51A1

NCBI Gene: 200931 ENSG00000163959 UniProt: Q86UW1 OMIM: 612084

The SLC51A protein is an essential component of the Ost-alpha/Ost-beta transporter complex that exports bile acids from intestinal cells into portal blood circulation. Mutations cause progressive familial intrahepatic cholestasis type 6, a liver disease with autosomal recessive inheritance. The gene shows moderate constraint to loss-of-function variants (LOEUF 0.631), reflecting its important role in bile acid transport and enterohepatic circulation.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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, Jul 2025]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Cholestasis, progressive familial intrahepatic, 6MIM #619484

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.63

LOEUF

Multiple*

Mechanism· predicted