SLC51A Chromosome 3

Solute carrier family 51 member A
1 variant 1 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
Solute carrier family 51
Locus Type
gene with protein product
Location
3q29
Ensembl
ENSG00000163959
Associated Conditions (3)
Cholestasis
progressive familial intrahepatic
6
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS1388285232 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic, 6
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