ATP-Binding Cassette, Subfamily G, Member 8

Alternative Names

  • ABCG8
  • Sterolin 2

Associated Diseases

Sitosterolemia 1
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OMIM Number

605460

NCBI Gene ID

64241

Uniprot ID

Q9H221

Length

54,035 bases

No. of Exons

15

No. of isoforms

2

Protein Name

ATP-Binding Cassette Subfamily G Member 8

Molecular Mass

75679 Da

Amino Acid Count

673

Genomic Location

chr2:43,828,954-43,882,988

Gene Map Locus
2p21

Description

Similar to other proteins in the ABC superfamily, the ABCG8 gene encodes a protein involved in the transport of molecules across membranes. The ABCG8 protein forms a heterodimer with ABCG5 and regulates the absorption of cholesterol and sterol in the intestine. 

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_022437.3:c.965-1G>CTunisiaNC_000002.12:g.43871975G>CPathogenic, Uncertain SignificancePathogenicSitosterolemia 1NG_008884.2:g.45034G>C; NM_022437.3:c.965-1G>C; NP_071882.1:p.?957176669546173
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