ABCG8
Sign in to saveAlso known as GBD4, STSL, ATP binding cassette subfamily G member 8, STSL1
ATP-binding cassette sub-family G member 8 is a protein that in humans is encoded by the ABCG8 gene.
Gene data
ABCG8- Name
- ATP binding cassette subfamily G member 8
- Type
- protein-coding
- Position
- 43,831,942–43,882,988 (+)
- Aliases
- GBD4, STSL, STSL1
- Ensembl
- ENSG00000143921
- RefSeq RNA
- NM_001357321.2, NM_022437.3
- RefSeq protein
- NP_001344250.1, NP_071882.1
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions to exclude non-cholesterol sterol entry at the intestinal level, promote excretion of cholesterol and sterols into bile, and to facilitate transport of sterols back into the intestinal lumen. It is expressed in a tissue-specific manner in the liver, intestine, and gallbladder. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG5. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
ATP binding cassette subfamily G member 8
- Symbol
- ABCG8
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 2:43,831,942-43,882,988
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 9 more facts
- HomoloGene ID
- 23361
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/64241
- chromosome
- human chromosome 2
- genomic start
- 43831942
- genomic end
- 43882988
- cytogenetic location
- 2p21
- genetic association
- sitosterolemia
- expressed in
- cingulate gyrus
Sources (6)
via Wikidata · CC0
~2 min read
Encyclopedic overview
5 sectionsContents
- Interactive pathway map
- See also
- References
- Further reading
- External links
ATP-binding cassette sub-family G member 8 is a protein that in humans is encoded by the ABCG8 gene.
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. It is expressed in a tissue-specific manner in the liver, colon, and intestine. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG5. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia.
Excerpted from Wikipedia’s “ABCG8” article, available under the CC BY-SA 4.0 licence.