ATP-Binding Cassette, Subfamily G, Member 1

Alternative Names

  • ABCG1
  • ATP-Binding Cassette Transporter 8
  • ABC8
  • ABC Transporter 8
  • White, Drosophila, Homolog Of
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OMIM Number

603076

NCBI Gene ID

9619

Uniprot ID

P45844

Length

104,699 bases

No. of Exons

23

No. of isoforms

8

Protein Name

ATP-binding cassette sub-family G member 1

Molecular Mass

75592 Da

Amino Acid Count

678

Genomic Location

chr21:42,199,688-42,304,386

Gene Map Locus
21q22.3

Description

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. It is involved in macrophage cholesterol and phospholipids transport, and may regulate cellular lipid homeostasis in other cell types. Six alternative splice variants have been identified. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_016818.3:c.973+672G>ALebanonNC_000021.9:g.42286666G>ADrug ResponseBreast CancerNM_016818.3:c.973+672G>A3788007
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