Recombinant Human ATP-binding cassette sub-family G member 8 (ABCG8), Truncated

Uniprot Id

Q9H221

Target Species

Human

Target Name

ABCG8

Target Full Name

ATP-binding cassette sub-family G member 8

Target Function

ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane. Plays an essential role in the selective transport of the dietary cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile. Required for normal sterol homeostasis. The heterodimer with ABCG5 has ATPase activity.

Target Involvement

Gallbladder disease 4 (GBD4); Sitosterolemia (STSL)

Target Subcellular Location

Cell membrane; Multi-pass membrane protein. Apical cell membrane; Multi-pass membrane protein.

Target Protein Families

ABC transporter superfamily, ABCG family, Eye pigment precursor importer (TC 3.A.1.204) subfamily

Target Tissue Specificity

Predominantly expressed in the liver. Low expression levels in the small intestine and colon. Very low levels in other tissues, including brain, heart and spleen.

Target Synonyms

ABCG8; ATP-binding cassette sub-family G member 8; Sterolin-2

Target Background

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions to exclude non-cholesterol sterol entry at the intestinal level, promote excretion of cholesterol and sterols into bile, and to facilitate transport of sterols back into the intestinal lumen. It is expressed in a tissue-specific manner in the liver, intestine, and gallbladder. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG5. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia.