ATP-binding cassette sub-family G member 8; sterolin-2 (ABCG8)

Function

• transporter
• role in selective transport of the dietary cholesterol in & out of enterocytes
• role in selective sterol excretion by the liver into bile
• may form heterodimers with ABCG5 or be tightly coupled to ABCG5 along a pathway regulating diatery-sterol absorption & excretion

Structure

• belongs to the ABC transporter family, ABCG (White) subfamily
• contains 1 ABC transporter domain
• seems to have a defective ATP-binding region

Compartment

membrane (probable)

Alternative splicing

named isoforms=2

Expression

• strongly expressed in the liver
• lower levels in small intestine & colon
• detectable in a wide variety of human tissues

Pathology

• genetic variations in ABCG8 can be associated with susceptibility to cholelithiasis
• defects in ABCG8 are a cause of sitosterolemia

More general terms

• transmembrane 6 protein
• ATP-binding cassette sub-family G (ABC transporter-G, ABG)
• glycoprotein

Additional terms

• beta-sitosterolemia; phytosterolemia; shellfish sterolemia

Database

• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6424
• OMIM: https://mirror.omim.org/entry/210250
• OMIM: https://mirror.omim.org/entry/605460
• OMIM: https://mirror.omim.org/entry/611465
• UniProt: http://www.uniprot.org/uniprot/Q9H221.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=64241