Reference Gene

Gene name Alias Species Exons Type Paralogs EC number OMIM
ABCG5 ATP binding cassette subfamily G member 5 STSL , STSL2 Homo sapiens 16 protein-coding ABCG4 , ABCG1 , ABCG8 , ABCG2 605459

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 as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. It is expressed in a tissue-specific manner in the liver, colon, and intestine. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG8. Mutations in this gene may contribute to sterol accumulation and atheroschlerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008]

GeneOntology

Gene Loss events - ABCG5 (3 results)

GL_ID Species Order Gene Loss Mechanism Loss Type Lineage Specific Citation
GL_IW8OSB Loxodonta africana Proboscidea LOF (frameshift, premature stop, ss) Full Elephantidae 10.1093/nargab/lqz012
GL_KE3YAP Trichechus manatus latirostris Sirenia LOF (frameshift, premature stop, ss) Full 10.1093/nargab/lqz012
GL_RTYXHS Elephas maximus indicus Proboscidea LOF (frameshift, premature stop, ss) Full Elephantidae 10.1093/nargab/lqz012