SLC10A1 Chromosome 14
Solute carrier family 10 member 1
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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
RS141269120
Conflicting classifications of pathogenicity
SLC10A1-related disorder, SLC10A1-related disorder
Health Risk
RS147226818
Conflicting classifications of pathogenicity
Hypercholanemia, familial, 2
Health Risk
RS200149939
Conflicting classifications of pathogenicity
Health Risk
RS200282964
Conflicting classifications of pathogenicity
Hypercholanemia, familial, 2
Health Risk
RS200809908
Conflicting classifications of pathogenicity
SLC10A1-related disorder, Hypercholanemia, familial
Health Risk
RS2296651
Conflicting classifications of pathogenicity
Hypercholanemia, familial, 2
Health Risk
RS747530550
Conflicting classifications of pathogenicity
Health Risk
RS765246704
Conflicting classifications of pathogenicity
SLC10A1-related disorder, Hypercholanemia, familial
Health Risk
RS2503021993
Likely pathogenic
Hypercholanemia, familial, 2
Health Risk
RS2503028730
Likely pathogenic
SLC10A1-related disorder, SLC10A1-related disorder
Health Risk
RS748008197
Likely pathogenic
SLC10A1-related disorder, SLC10A1-related disorder
Health Risk
RS757442230
Likely pathogenic
SLC10A1-related disorder, SLC10A1-related disorder
Health Risk
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 |