ATP-binding cassette, sub-family G (WHITE), member 8; GBD4; MGC142217; STSL; ATP-binding cassette sub-family G member 8|ATP-binding cassette; subfamily G; member 8|sterolin 2

For Research Use Only. Not for use in diagnostic procedures.

Chromosome: 2; NC_000002.11 (44066103..44105605). Location: 2p21

Store all reagents at 2-8 degree C

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Small volumes of ABCG8 elisa kit vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

MBS9332890 is a ready-to-use microwell, strip plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the ATP-binding cassette sub-family G member 8 (ABCG8) ELISA Kit target analytes in biological samples. The concentration gradients of the kit standards or positive controls render a theoretical kit detection range in biological research samples containing ABCG8. The ELISA analytical biochemical technique of the MBS9332890 kit is based on ABCG8 antibody-ABCG8 antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect ABCG8 antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, ABCG8. Appropriate sample types may include undiluted body fluids and/or tissue homogenates, secretions. Quality control assays assessing reproducibility identified the intra-assay CV (%) and inter-assay CV(%).

75,679 Da

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

ATP-binding cassette sub-family G member 8; sterolin 2; sterolin-2; ATP-binding cassette, subfamily G, member 8

ATP-binding cassette sub-family G member 8

ABCG8_HUMAN

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]

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, ABC family; Membrane protein, integral; Membrane protein, multi-pass; Transporter

Chromosomal Location of Human Ortholog: 2p21

Cellular Component: apical plasma membrane; plasma membrane; ATP-binding cassette (ABC) transporter complex; receptor complex

Molecular Function: protein binding; protein heterodimerization activity; cholesterol transporter activity; ATPase activity; ATP binding

Biological Process: response to drug; negative regulation of cholesterol absorption; cholesterol homeostasis; cholesterol absorption; phospholipid transport; cholesterol efflux; excretion; transmembrane transport; response to nutrient; sterol transport

Disease: Sitosterolemia; Gallbladder Disease 4

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