ABCMdb

PMID: 12359125

Burris TP, Eacho PI, Cao G
Genetic disorders associated with ATP binding cassette cholesterol transporters.
Mol Genet Metab. 2002 Sep-Oct;77(1-2):13-20., [PubMed]

Sentences

No. Mutations Sentence Comment

112 ABCG5 p.Arg419His ABCG5 p.Arg408* ABCG5 p.Arg243* ABCG5 p.Arg389His ABCG5 p.Arg419Pro ABCG8 p.Leu596Arg ABCG8 p.Pro231Thr ABCG8 p.Arg263Gln ABCG8 p.Gly574Arg ABCG8 p.Arg412* ABCA1 p.Gly788Ala Regulation of ABC cholesterol transporters by LXR/ RXR heterodimer One feature of ABC transporters is that they are usually feed back/forward regulated by their own sub-Table 2 Summary of mutations described in sitosterolemia Nucleotide sequence change Protein sequence change ABC transporters References 402Del Truncated protein ABCG5 [12] C867T R243X ABCG5 [12] G1306A R389H ABCG5 [12] C1362T R408X ABCG5 [11,12] G1396A R419H ABCG5 [12] G1396C R419P ABCG5 [12] 547Del P231T ABCG8 [11] A691C 191Stop ABCG8 [11] G788A R263Q ABCG8 [11] G1083A W361Stop ABCG8 [11] C1234T R412stop ABCG8 [11] G1720A G574R ABCG8 [11] T1787G L596R ABCG8 [11] C1974G Y658Stop ABCG8 [11] strates at the level of transcription. Login to comment