ABCG5 and ABCG8 are ATP-binding cassette (ABC) half-transporters that must heterodimerize to move to the apical surface of cells.
Pathology
Mutations in ABCG5 or ABCG8 cause sitosterolemia, an autosomal recessive disease characterized by sterol accumulation and premature atherosclerosis.
- The majority of the molecular defects in G5 and G8 that cause sitosterolemia impair transport of the sterol transporter to the cell surface.
See also
N-linked glycans
G5/G8 heterodimer
protein folding
protein trafficking