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ABCG5_HUMAN; ATP binding cassette sub family G (WHITE) member 5 (sterolin 1); ATP binding cassette sub family G member 5; ATP-binding cassette sub-family G member 5; Sterolin 1; Sterolin-1; STSL.
Cat:
SL5013R
Species Reactivity：
Rat,(predicted: Human,Mouse,Dog,Pig,Cow,Horse,Rabbit,)
Immunogen：
KLH conjugated synthetic peptide derived from human ABCG5:251-350/651<Cytoplasmic>
Format：
Liquid
Storage instructions：
Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
Concentration：
1mg/ml
Clonality：
Polyclonal
Isotype：
IgG
Applications：
ELISA=1:5000-10000IHC-P=1:100-500IHC-F=1:100-500IF=1:100-500（Paraffin sections need to do antigen repair）not yet tested in other applications.optimal dilutions/concentrations should be determined by the end user.
Host：
Rabbit
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Unit:
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Product PDFs
Datasheet:


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].

Function:
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.

Subunit:
May form heterodimers with ABCG8 or be tightly coupled to ABCG8 along a pathway regulating diatery-sterol absorption and excretion.

Subcellular Location:
Membrane; Multi-pass membrane protein (Probable).

Tissue Specificity:
Strongly expressed in the liver, lower levels in the small intestine and colon.

DISEASE:
Defects in ABCG5 are a cause of sitosterolemia (STSL) [MIM:210250]; 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.

Similarity:
Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily.
Contains 1 ABC transmembrane type-2 domain.
Contains 1 ABC transporter domain.

SWISS:
Q9H222

Gene ID:
6448

Database links:

Entrez Gene: 6448 Human

Omim: 605459 Human

SwissProt: Q9H222 Human

Unigene: 132992 Human



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