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ABCA8 ATP binding cassette subfamily A member 8

Gene ID: 10351, updated on 2-Nov-2024
Gene type: protein coding

Summary

The membrane-associated 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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The encoded protein may regulate lipid metabolism and be involved in the formation and maintenance of myelin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Biological, clinical and population relevance of 95 loci for blood lipids.
GeneReviews: Not available
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available

Genomic context

Location:
17q24.2
Sequence:
Chromosome: 17; NC_000017.11 (68867289..68955392, complement)
Total number of exons:
41

Links

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