| Transporter Information: | |
| Name: | ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2) |
|---|---|
| Symbol: | ABCG8 |
| TC: | 3.A.1.204.1 |
| Locations: | 2p21 |
| Swiss-Prot: | Q9H221 |
| Accession Number: | NM_022437 |
| GDB | GDB:10450300 |
| LocusLink | 64241 |
| OMIM | 605460 |
| PubMed (11099417): | Berge KE, Tian H, Graf GA, Yu L, Grishin NV, Schultz J, Kwiterovich P, ShanB, Barnes R, Hobbs HH. Accumulation of dietary cholesterol in sitosterolemia caused by mutations inadjacent ABC transporters.Science. 2000 Dec 1;290(5497):1771-5. PMID: 11099417 [PubMed - indexed for MEDLINE] In healthy individuals, acute changes in cholesterol intake produce modest changes in plasma cholesterol levels. A striking exception occurs in sitosterolemia, an autosomal recessive disorder characterized by increased intestinal absorption and decreased biliary excretion of dietary sterols, hypercholesterolemia, and premature coronary atherosclerosis. We identified seven different mutations in two adjacent, oppositely oriented genes that encode new members of the adenosine triphosphate (ATP)-binding cassette (ABC) transporter family (six mutations in ABCG8 and one in ABCG5) in nine patients with sitosterolemia. The two genes are expressed at highest levels in liver and intestine and, in mice, cholesterol feeding up-regulates expressions of both genes. These data suggest that ABCG5 and ABCG8 normally cooperate to limit intestinal absorption and to promote biliary excretion of sterols, and that mutated forms of these transporters predispose to sterol accumulation and atherosclerosis. |
>sp|Q9H221|ABCG8_HUMAN ATP-binding cassette sub-family G member 8 (Sterolin-2) - Homo sapiens (Human).
MAGKAAEERGLPKGATPQDTSGLQDRLFSSESDNSLYFTYSGQPNTLEVRDLNYQVDLASQVPWFEQLAQFKMPWTSPSC
QNSCELGIQNLSFKVRSGQMLAIIGSSGCGRASLLDVITGRGHGGKIKSGQIWINGQPSSPQLVRKCVAHVRQHNQLLPN
LTVRETLAFIAQMRLPRTFSQAQRDKRVEDVIAELRLRQCADTRVGNMYVRGLSGGERRRVSIGVQLLWNPGILILDEPT
SGLDSFTAHNLVKTLSRLAKGNRLVLISLHQPRSDIFRLFDLVLLMTSGTPIYLGAAQHMVQYFTAIGYPCPRYSNPADF
YVDLTSIDRRSREQELATREKAQSLAALFLEKVRDLDDFLWKAETKDLDEDTCVESSVTPLDTNCLPSPTKMPGAVQQFT
TLIRRQISNDFRDLPTLLIHGAEACLMSMTIGFLYFGHGSIQLSFMDTAALLFMIGALIPFNVILDVISKCYSERAMLYY
ELEDGLYTTGPYFFAKILGELPEHCAYIIIYGMPTYWLANLRPGLQPFLLHFLLVWLVVFCCRIMALAAAALLPTFHMAS
FFSNALYNSFYLAGGFMINLSSLWTVPAWISKVSFLRWCFEGLMKIQFSRRTYKMPLGNLTIAVSGDKILSVMELDSYPL
YAIYLIVIGLSGGFMVLYYVSLRFIKQKPSQDW
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