ABCG8

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. [provided by RefSeq, Jul 2008]

Description

ATP-binding cassette, sub-family G (WHITE), member 8

Protein family

Membrane proteins predicted by MDM, Transporters

Chromosome

2:p21 (44066103 - 44105605)

Ensembl ID

ENSG00000143921  (ver. 69.37)

Orthologs

Mouse Abcg8: ENSMUSG00000024254

Human splice variants
Mouse splice variants