NP_114090.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
73,244 Da
NCBI Official Full Name
ATP-binding cassette sub-family G member 5
NCBI Official Synonym Full Names
ATP binding cassette subfamily G member 5
NCBI Protein Information
ATP-binding cassette sub-family G member 5
UniProt Protein Name
ATP-binding cassette sub-family G member 5
UniProt Synonym Protein Names
Sterolin-1
NCBI Summary for ABCG5
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, and functions as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. Disruption of this gene in mice results in thrombocytopenia, prolonged bleeding times, anemia, leukopenia, infertility, shortened life span and cardiomyopathy. Mice lacking this gene show symptoms of sitosterolemia. [provided by RefSeq, Nov 2015]
UniProt Comments for ABCG5
ABCG5: 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. Defects in ABCG5 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.
Protein type: Membrane protein, integral; Membrane protein, multi-pass; Transporter; Transporter, ABC family
Chromosomal Location of Human Ortholog: 17 E4|17 55.02 cM
Cellular Component: apical part of cell; apical plasma membrane; ATP-binding cassette (ABC) transporter complex; integral component of membrane; membrane; receptor complex
Molecular Function: ATP binding; ATPase activity; ATPase activity, coupled to transmembrane movement of substances; cholesterol transporter activity; nucleotide binding; protein heterodimerization activity
Biological Process: cholesterol efflux; cholesterol homeostasis; drug transmembrane transport; excretion; intestinal cholesterol absorption; negative regulation of cholesterol absorption; transport
Research Articles on ABCG5
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Pathways associated with anti-ABCG5 antibody
Diseases associated with anti-ABCG5 antibody
Organs/Tissues associated with anti-ABCG5 antibody
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