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ABCG8

From SNPedia

is agene
is mentioned by
Full nameATP-binding cassette, sub-family G (WHITE), member 8
EntrezGene64241
PheGenI64241
VariationViewer64241
ClinVarABCG8
GeneCardsABCG8
dbSNP64241
SADR64241
HugeNav64241
wikipediaABCG8
googleABCG8
gopubmedABCG8
EVSABCG8
HEFalMpABCG8
MyGene2ABCG8
23andMeABCG8
UniProtQ9H221
EnsemblENSG00000143921
OMIM605460
# SNPs22
 Max MagnitudeChromosome positionSummary
rs11887534343,839,108
rs119480070043,837,870
rs137852987043,872,094
rs137852988043,875,377
rs137852989043,877,865
rs137852990043,852,692
rs137852991043,873,809
rs137852992043,877,591
rs137852993043,852,483
rs137854891043,846,309
rs3806471043,839,035
rs387906323043,851,808
rs387906912043,838,634
rs41360247043,846,517
rs414821143,844,604
rs4148217043,872,294
rs424579143,847,292
rs429937643,845,437
rs4953023043,846,861
rs654471343,846,742
rs6544718043,877,786
rs6756629043,837,951

ABCG8, ATP-binding cassette G8, is a protein transporter expressed in the liver and intestines that limits sterol absorption.

rs11887534 is associated with gallstones.

Several mutations cause sitosterolemia, a rare lipid metabolic disorder.