ABCG5

ABCG5

ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1), also known as ABCG5, is a human gene.cite web | title = Entrez Gene: ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64240| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64240| accessdate = ]

ee also

* ATP-binding cassette transporter

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Schmitz G, Langmann T, Heimerl S |title=Role of ABCG1 and other ABCG family members in lipid metabolism. |journal=J. Lipid Res. |volume=42 |issue= 10 |pages= 1513–20 |year= 2002 |pmid= 11590207 |doi=
*cite journal | author=Patel SB, Salen G, Hidaka H, "et al." |title=Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21. |journal=J. Clin. Invest. |volume=102 |issue= 5 |pages= 1041–4 |year= 1998 |pmid= 9727073 |doi=
*cite journal | author=Berge KE, Tian H, Graf GA, "et al." |title=Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. |journal=Science |volume=290 |issue= 5497 |pages= 1771–5 |year= 2000 |pmid= 11099417 |doi=
*cite journal | author=Lee MH, Lu K, Hazard S, "et al." |title=Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. |journal=Nat. Genet. |volume=27 |issue= 1 |pages= 79–83 |year= 2001 |pmid= 11138003 |doi= 10.1038/83799
*cite journal | author=Shulenin S, Schriml LM, Remaley AT, "et al." |title=An ATP-binding cassette gene (ABCG5) from the ABCG (White) gene subfamily maps to human chromosome 2p21 in the region of the Sitosterolemia locus. |journal=Cytogenet. Cell Genet. |volume=92 |issue= 3-4 |pages= 204–8 |year= 2001 |pmid= 11435688 |doi=
*cite journal | author=Lu K, Lee MH, Hazard S, "et al." |title=Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively. |journal=Am. J. Hum. Genet. |volume=69 |issue= 2 |pages= 278–90 |year= 2001 |pmid= 11452359 |doi=
*cite journal | author=Hubacek JA, Berge KE, Cohen JC, Hobbs HH |title=Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia. |journal=Hum. Mutat. |volume=18 |issue= 4 |pages= 359–60 |year= 2002 |pmid= 11668628 |doi= 10.1002/humu.1206
*cite journal | author=Lam CW, Cheng AW, Tong SF, Chan YW |title=Novel donor splice site mutation of ABCG5 gene in sitosterolemia. |journal=Mol. Genet. Metab. |volume=75 |issue= 2 |pages= 178–80 |year= 2002 |pmid= 11855938 |doi= 10.1006/mgme.2001.3285
*cite journal | author=Lu K, Lee MH, Yu H, "et al." |title=Molecular cloning, genomic organization, genetic variations, and characterization of murine sterolin genes Abcg5 and Abcg8. |journal=J. Lipid Res. |volume=43 |issue= 4 |pages= 565–78 |year= 2002 |pmid= 11907139 |doi=
*cite journal | author=Heimerl S, Langmann T, Moehle C, "et al." |title=Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia. |journal=Hum. Mutat. |volume=20 |issue= 2 |pages= 151 |year= 2002 |pmid= 12124998 |doi= 10.1002/humu.9047
*cite journal | author=Remaley AT, Bark S, Walts AD, "et al." |title=Comparative genome analysis of potential regulatory elements in the ABCG5-ABCG8 gene cluster. |journal=Biochem. Biophys. Res. Commun. |volume=295 |issue= 2 |pages= 276–82 |year= 2002 |pmid= 12150943 |doi=
*cite journal | author=Graf GA, Li WP, Gerard RD, "et al." |title=Coexpression of ATP-binding cassette proteins ABCG5 and ABCG8 permits their transport to the apical surface. |journal=J. Clin. Invest. |volume=110 |issue= 5 |pages= 659–69 |year= 2002 |pmid= 12208867 |doi=
*cite journal | author=Yu L, Li-Hawkins J, Hammer RE, "et al." |title=Overexpression of ABCG5 and ABCG8 promotes biliary cholesterol secretion and reduces fractional absorption of dietary cholesterol. |journal=J. Clin. Invest. |volume=110 |issue= 5 |pages= 671–80 |year= 2002 |pmid= 12208868 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Graf GA, Yu L, Li WP, "et al." |title=ABCG5 and ABCG8 are obligate heterodimers for protein trafficking and biliary cholesterol excretion. |journal=J. Biol. Chem. |volume=278 |issue= 48 |pages= 48275–82 |year= 2004 |pmid= 14504269 |doi= 10.1074/jbc.M310223200
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Kajinami K, Brousseau ME, Nartsupha C, "et al." |title=ATP binding cassette transporter G5 and G8 genotypes and plasma lipoprotein levels before and after treatment with atorvastatin. |journal=J. Lipid Res. |volume=45 |issue= 4 |pages= 653–6 |year= 2004 |pmid= 14703505 |doi= 10.1194/jlr.M300278-JLR200
*cite journal | author=Freeman LA, Kennedy A, Wu J, "et al." |title=The orphan nuclear receptor LRH-1 activates the ABCG5/ABCG8 intergenic promoter. |journal=J. Lipid Res. |volume=45 |issue= 7 |pages= 1197–206 |year= 2005 |pmid= 15121760 |doi= 10.1194/jlr.C400002-JLR200
*cite journal | author=Yu L, Gupta S, Xu F, "et al." |title=Expression of ABCG5 and ABCG8 is required for regulation of biliary cholesterol secretion. |journal=J. Biol. Chem. |volume=280 |issue= 10 |pages= 8742–7 |year= 2005 |pmid= 15611112 |doi= 10.1074/jbc.M411080200

External links

*

PBB_Controls
update_page = yes
require_manual_inspection = no
update_protein_box = yes
update_summary = yes
update_citations = yes


Wikimedia Foundation. 2010.

Игры ⚽ Нужна курсовая?

Look at other dictionaries:

  • ABCG5 — Sterolin 1, ABCG5 Größe 651 Aminosäuren Struktur multipass Membranprotein, Heterodimer Bezeichner …   Deutsch Wikipedia

  • ABCG8 — ATP binding cassette, sub family G (WHITE), member 8 (sterolin 2), also known as ABCG8, is a human gene.cite web | title = Entrez Gene: ABCG8 ATP binding cassette, sub family G (WHITE), member 8 (sterolin 2)| url =… …   Wikipedia

  • Sterolin — protein Name = ATP binding cassette, sub family G (WHITE), member 5 (sterolin 1) caption = width = HGNCid = 13886 Symbol = ABCG5 AltSymbols = EntrezGene = 64240 OMIM = 605459 RefSeq = NM 022436 UniProt = Q9H222 PDB = ECnumber = Chromosome = 2 Arm …   Wikipedia

  • ABCG8 — Sterolin 1, ABCG5 Größe 651 Aminosäuren Struktur multipass Membranprotein, Heterodimer Bezeichner …   Deutsch Wikipedia

  • Sterolin — 1, ABCG5 Masse/Länge Primärstruktur 651 Aminosäuren …   Deutsch Wikipedia

  • Chromosome 2 (human) — Chromosome 2 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 2 is the second largest human chromosome, spanning more than 237 million base pairs [1] (the building material of DNA)… …   Wikipedia

  • Sitosterolemia — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 29796 ICD10 = ICD9 = ICDO = OMIM = 210250 MedlinePlus = eMedicineSubj = ped eMedicineTopic = 2110 MeshID = Sitosterolemia (also known as phytosterolemia) is a rare autosomal recessively… …   Wikipedia

  • 2-я хромосома человека — Идиограмма 2 й хромосомы человека 2 я хромосома человека  одна из 23 человеческих хромосом и вторая по величине, одна из 22 аутосом человека. Хромосома содержит более 242 млн пар оснований …   Википедия

  • Sitosterolemia — A genetic disease involving lipids (fats) in which there is excessive intestinal absorption of dietary sterols and impaired clearance of these sterols from the liver into the bile. These sterols include cholesterol and the plant sterol sitosterol …   Medical dictionary

  • Lipid — Structures of some common lipids. At the top are oleic acid[1] and cholesterol.[2] The middle structure is a triglyceride composed of oleoyl, stearoyl, and palmitoyl chains at …   Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”