NP_071882.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
ATP-binding cassette sub-family G member 8
NCBI Official Synonym Full Names
ATP binding cassette subfamily G member 8
NCBI Official Synonym Symbols
NCBI Protein Information
ATP-binding cassette sub-family G member 8
UniProt Protein Name
ATP-binding cassette sub-family G member 8
UniProt Synonym Protein Names
Sterolin-2
UniProt Entry Name
ABCG8_HUMAN
NCBI Summary for 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]
UniProt Comments for ABCG8
ABCG8: Transporter that appears to play an indispensable 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. Genetic variations in ABCG8 can be associated with susceptibility to gallbladder disease type 4 (GBD4). With an overall prevalence of 10-20%, gallstone disease (cholelithiasis) represents one of the most frequent and economically relevant health problems of industrialized countries. Defects in ABCG8 are a cause of sitosterolemia (STSL); also known as phytosterolemia or shellfish sterolemia. It is a rare autosomal recessive disorder characterized by increased intestinal absorption of all sterols including cholesterol, plant and shellfish sterols, and decreased biliary excretion of dietary sterols into bile. Sitosterolemia patients have hypercholesterolemia, very high levels of plant sterols in the plasma, and frequently develop tendon and tuberous xanthomas, accelerated atherosclerosis and premature coronary artery disease. Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Transporter; Membrane protein, integral; Membrane protein, multi-pass; Transporter, ABC family
Chromosomal Location of Human Ortholog: 2p21
Cellular Component: apical plasma membrane; ATP-binding cassette (ABC) transporter complex; plasma membrane; receptor complex
Molecular Function: ATP binding; ATPase activity; ATPase activity, coupled to transmembrane movement of substances; cholesterol transporter activity; protein binding; protein heterodimerization activity
Biological Process: cholesterol absorption; cholesterol efflux; cholesterol homeostasis; excretion; negative regulation of cholesterol absorption; phospholipid transport; response to drug; response to nutrient; sterol transport; transmembrane transport
Disease: Gallbladder Disease 4; Sitosterolemia
Research Articles on ABCG8
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Products associated with ABCG8 recombinant protein
Diseases associated with ABCG8 recombinant protein
Organs/Tissues associated with ABCG8 recombinant protein
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