GONUTS has been updated to MW1.31 Most things seem to be working but be sure to report problems.
PMID:15040800
| Citation |
Klett, EL, Lu, K, Kosters, A, Vink, E, Lee, MH, Altenburg, M, Shefer, S, Batta, AK, Yu, H, Chen, J, Klein, R, Looije, N, Oude-Elferink, R, Groen, AK, Maeda, N, Salen, G and Patel, SB (2004) A mouse model of sitosterolemia: absence of Abcg8/sterolin-2 results in failure to secrete biliary cholesterol. BMC Med 2:5 |
|---|---|
| Abstract |
Mutations in either of two genes comprising the STSL locus, ATP-binding cassette (ABC)-transporters ABCG5 (encoding sterolin-1) and ABCG8 (encoding sterolin-2), result in sitosterolemia, a rare autosomal recessive disorder of sterol trafficking characterized by increased plasma plant sterol levels. Based upon the genetics of sitosterolemia, ABCG5/sterolin-1 and ABCG8/sterolin-2 are hypothesized to function as obligate heterodimers. No phenotypic difference has yet been described in humans with complete defects in either ABCG5 or ABCG8. These proteins, based upon the defects in humans, are responsible for regulating dietary sterol entry and biliary sterol secretion. |
| Links |
PubMed PMC394351 Online version:10.1186/1741-7015-2-5 |
| Keywords |
ATP-Binding Cassette Transporters/genetics; Animals; Bile/metabolism; Bile Acids and Salts/secretion; Cholesterol/analogs & derivatives; Cholesterol/blood; Cholesterol/secretion; Female; Gene Expression; Intestines/chemistry; Lipoproteins/deficiency; Lipoproteins/genetics; Male; Mice; Mice, Inbred C57BL; Mice, Knockout; Models, Animal; Mutation/genetics; Phytosterols/blood; Sitosterols/blood |
| edit table |
Significance
Annotations
| Gene product | Qualifier | GO ID | GO term name | Evidence Code | with/from | Aspect | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| edit table |
See also
References
See Help:References for how to manage references in GONUTS.
