ABCG5 And ABCG8 Genes
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ATP-binding cassette sub-family G member 5 is a
protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''ABCG5''
gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.


Function

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 ATP-binding cassette sub-family G member 8 is a protein that in humans is encoded by the ''ABCG8'' gene. The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various m ...
. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with
sitosterolemia Sitosterolemia, also known as phytosterolemia, is a rare autosomal recessively inherited lipid metabolic disorder. It is characterized by hyperabsorption and decreased biliary excretion of dietary sterols (including the phytosterol beta-sitoster ...
.


Interactive pathway map


See also

* ABCG5 and ABCG8 Genes


References


Further reading

* * * * * * * * * * * * * * *


External links

* * ATP-binding cassette transporters {{DEFAULTSORT:Abcfm