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ATP-binding cassette 1 (ABC1) gene
Loss of function mutations results in Tangier's disease. Transcription regulated by LXR-alpha & LXR-beta
Related
ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ATP-binding cassette 1; ABC-1; cholesterol efflux regulatory protein (ABCA1, ABC1, CERP)
LX nuclear receptor (LXR, oxysterol receptor)
Tangier disease; high density lipoprotein (HDL) deficiency type 1; analphalipoproteinemia (HDLD1)
General
unclassified gene
Properties
TEMPLATE-FOR: messenger RNA
TEMPLATE-FOR: ATP-binding cassette sub-family A member 1
LOCUS: human chromosome-9 Q22-31
MOTIF: LX response element (LXRE)
transcriptional start site
exon
intron
transcriptional termination site
Database Correlations
OMIM 600046
MORBIDMAP 600046
References
- Laffitte BA, Repa JJ, Joseph SB, Wilpitz DC, Kast HR,
Mangelsdorf DJ, Tontonoz P.
LXRs control lipid-inducible expression of the apolipoprotein
E gene in macrophages and adipocytes.
Proc Natl Acad Sci U S A. 2001 Jan 16;98(2):507-12.
Epub 2001 Jan 9.
PMID: 11149950