Underlined values are claims re-computed from the knowledge base each time this page is built. The tables below are the source of truth.

ABCG8 (sterolin-2) is an ABC-family half-transporter that forms an obligate functional heterodimer with ABCG5. At apical membranes of intestinal enterocytes and hepatocytes, the complex couples ATP hydrolysis to export of neutral sterols, including cholesterol and plant sterols, into the intestinal lumen or bile. This limits net dietary sterol absorption and supports elimination of sterols from the body. Each subunit contributes a transmembrane domain and elements of two asymmetric nucleotide-binding sites; ABCG8 supplies the signature region of the transport-essential catalytic site. Loss-of-function variants cause autosomal recessive sitosterolemia, with sterol accumulation and increased cardiovascular risk.

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.