Reference Gene

Gene name Alias Species Exons Type Paralogs EC number OMIM
ABCG8 ATP binding cassette subfamily G member 8 GBD4 , STSL , STSL1 Homo sapiens 13 protein-coding ABCG4 , ABCG1 , ABCG5 , ABCG2 605460

Summary

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]

GeneOntology

Gene Loss events - ABCG8 (3 results)

GL_ID Species Order Gene Loss Mechanism Loss Type Lineage Specific Citation
GL_4QSHJH Trichechus manatus latirostris Sirenia LOF (frameshift, premature stop, ss) Full 10.1093/nargab/lqz012
GL_GC0SFQ Loxodonta africana Proboscidea LOF (frameshift, premature stop, ss) Full Elephantidae 10.1093/nargab/lqz012
GL_NNWTVV Elephas maximus indicus Proboscidea LOF (frameshift, premature stop, ss) Full Elephantidae 10.1093/nargab/lqz012