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ATP-binding cassette sub-family G member 8; sterolin-2 (ABCG8)
Function:
- transporter
- role in selective transport of the dietary cholesterol in & out of enterocytes
- role in selective sterol excretion by the liver into bile
- may form heterodimers with ABCG5 or be tightly coupled to ABCG5 along a pathway regulating diatery-sterol absorption & excretion
Structure:
- belongs to the ABC transporter family, ABCG (White) subfamily
- contains 1 ABC transporter domain
- seems to have a defective ATP-binding region
Compartment: membrane (probable)
Alternative splicing: named isoforms=2
Expression:
- strongly expressed in the liver
- lower levels in small intestine & colon
- detectable in a wide variety of human tissues
Pathology:
- genetic variations in ABCG8 can be associated with susceptibility to cholelithiasis
- defects in ABCG8 are a cause of sitosterolemia
Related
beta-sitosterolemia; phytosterolemia; shellfish sterolemia
General
ATP-binding cassette sub-family G (ABC transporter-G, ABG)
glycoprotein
transmembrane 6 protein
Properties
SIZE: entity length = 673 aa
MW = 76 kD
COMPARTMENT: cellular membrane
MOTIF: cytoplasmic domain {1-416}
MOTIF: ABC transporter {47-313}
transmembrane domain {417-437}
exoplasmic loop {438-447}
transmembrane domain {448-468}
cytoplasmic loop {469-492}
transmembrane domain {493-513}
exoplasmic loop {514-531}
transmembrane domain {532-552}
cytoplasmic loop {553-569}
transmembrane domain {570-590}
exoplasmic loop {591-639}
MOTIF: N-glycosylation site {N619}
transmembrane domain {640-660}
cytoplasmic domain {661-673}
Database Correlations
OMIM correlations
MORBIDMAP 605460
UniProt Q9H221
PFAM correlations
Entrez Gene 64241
Kegg hsa:6424
References
- UniProt :accession Q9H221
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCG8