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Tuesday 17 July 2007

ABCG5 and ABCG8 are ATP-binding cassette (ABC) half-transporters that must heterodimerize to move to the apical surface of cells.


- 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