ABCMdb

PMID: 22484926

Kato M, Ito Y, Tanaka Y, Sato M, Imaizumi K, Inoue N, Ikeda I
SHRSP/Izm and WKY/NCrlCrlj rats having a missense mutation in Abcg5 deposited plant sterols in the body, but did not change their biliary secretion and lymphatic absorption-comparison with Jcl:Wistar and WKY/Izm rats.
Biosci Biotechnol Biochem. 2012;76(4):660-4. Epub 2012 Apr 7., [PubMed]

Sentences

No. Mutations Sentence Comment

104 ABCG8 p.Leu596Arg ABCG8 p.Leu596Arg A mutation at Leu596Arg in ABCG8 has been reported in a sitosterolemic patient,4) and it has been found that ABCG8 had a similar conformation to that of ABCG5.4) It is therefore thought that the Leu596Arg mutation in ABCG8 inhabited a region similar to the Gly583Cys mutation in ABCG5.4) The results suggest a possibility that the Gly583Cys mutation in ABCG5 influences the function of ABCG5/ ABCG8. Login to comment 106 ABCG8 p.Leu596Arg ABCG8 p.Leu596Arg A mutation at Leu596Arg in ABCG8 has been reported in a sitosterolemic patient,4) and it has been found that ABCG8 had a similar conformation to that of ABCG5.4) It is therefore thought that the Leu596Arg mutation in ABCG8 inhabited a region similar to the Gly583Cys mutation in ABCG5.4) The results suggest a possibility that the Gly583Cys mutation in ABCG5 influences the function of ABCG5/ ABCG8. Login to comment