rs72547505
This is a variant in the SLC10A2 gene that changes a threonine to an lysine.
▶ClinVar annotation
not provided; SLC10A2-related disorder; Bile acid malabsorption, primary, 1
View on ClinVar →About SLC10A2
This gene encodes a sodium/bile acid cotransporter. This transporter is the primary mechanism for uptake of intestinal bile acids by apical cells in the distal ileum. Bile acids are the catabolic product of cholesterol metabolism, so this protein is also critical for cholesterol homeostasis. Mutations in this gene cause primary bile acid malabsorption (PBAM); muatations in this gene may also be associated with other diseases of the liver and intestines, such as familial hypertriglyceridemia (FHTG). [provided by RefSeq, Mar 2010]
View all SLC10A2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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