SLC10A1 Chromosome 14

Solute carrier family 10 member 1
12 variants 12 Health Risk

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What This Gene Does
The protein encoded by this gene belongs to the sodium/bile acid cotransporter family, which are integral membrane glycoproteins that participate in the enterohepatic circulation of bile acids. Two homologous transporters are involved in the reabsorption of bile acids; the ileal sodium/bile acid cotransporter with an apical cell localization that absorbs bile acids from the intestinal lumen, bile duct and kidney, and the liver-specific sodium/bile acid cotransporter, represented by this protein, that is found in the basolateral membranes of hepatocytes. Bile acids are the catabolic product of cholesterol metabolism, hence this protein is important for cholesterol homeostasis. [provided by RefSeq, Oct 2011]
Gene Info
Gene Group
Solute carrier family 10
Locus Type
gene with protein product
Location
14q24.1
Ensembl
ENSG00000100652
Associated Conditions (6)
SLC10A1-related disorder
Hypercholanemia
familial
2
Hepatitis B virus
resistance to
Key Variants
All Variants (12)
RSID Category Clinical Significance Conditions
RS141269120 Health Risk Conflicting classifications of pathogenicity SLC10A1-related disorder, SLC10A1-related disorder
RS147226818 Health Risk Conflicting classifications of pathogenicity Hypercholanemia, familial, 2
RS200149939 Health Risk Conflicting classifications of pathogenicity
RS200282964 Health Risk Conflicting classifications of pathogenicity Hypercholanemia, familial, 2
RS200809908 Health Risk Conflicting classifications of pathogenicity SLC10A1-related disorder, Hypercholanemia, familial
RS2296651 Health Risk Conflicting classifications of pathogenicity Hypercholanemia, familial, 2
RS747530550 Health Risk Conflicting classifications of pathogenicity
RS765246704 Health Risk Conflicting classifications of pathogenicity SLC10A1-related disorder, Hypercholanemia, familial
RS2503021993 Health Risk Likely pathogenic Hypercholanemia, familial, 2
RS2503028730 Health Risk Likely pathogenic SLC10A1-related disorder, SLC10A1-related disorder
RS748008197 Health Risk Likely pathogenic SLC10A1-related disorder, SLC10A1-related disorder
RS757442230 Health Risk Likely pathogenic SLC10A1-related disorder, SLC10A1-related disorder
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