ABCA8 ATP binding cassette subfamily A member 8
Gene ID: 10351, updated on 28-Oct-2024Gene type: protein coding
- See all available tests in GTR for this gene
- Go to complete Gene record for ABCA8
- Go to Variation Viewer for ABCA8 variants
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
| Description | Tests |
|---|---|
| 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
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ABCA8 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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