ABCA8: ATP Binding Cassette Subfamily A Member 8
A transporter gene implicated in lipid homeostasis and potential roles in cancer and neurological disorders.
Gene Information Card
| Symbol | ABCA8 |
|---|---|
| Full Name | ATP Binding Cassette Subfamily A Member 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q24.2 |
| NCBI Gene ID | 10351 ncbi.nlm.nih.gov/gene/10351 |
| Ensembl ID | ENSG00000141338 |
| UniProt ID | O94911 |
| OMIM ID | 612505 |
| HGNC ID | 38 |
| Aliases | ABC-A8, EST328128 |
Description
ABCA8 (ATP Binding Cassette Subfamily A Member 8) is a protein-coding gene that belongs to the ABC transporter superfamily. The encoded protein is involved in lipid transport, particularly cholesterol and phospholipids, across cellular membranes. ABCA8 is expressed in multiple tissues including liver, kidney, and brain, and has been implicated in drug resistance and tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Familial hypercholesterolemia | Potential role in cholesterol efflux; variants may impair lipid transport | ClinVar |
| Glioma | Altered expression associated with tumor progression and chemoresistance | COSMIC, NCBI |
| Ovarian cancer | Upregulation linked to poor prognosis and drug resistance | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Brain | 6.1 | Low |
| Lung | 4.2 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| A549 | 7.8 | Lung adenocarcinoma cell line |
| U87MG | 5.4 | Glioblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.01% | p.Arg412Cys; potential loss of function |
| c.567delA | Frameshift | <0.01% | Truncated protein; loss of function |
| c.890G>A | Missense | 0.02% | p.Arg297Gln; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants leading to truncated or unstable protein.
Gain of Function (GOF)
Not reported in literature or curated databases.
Dominant Negative (DN)
Not reported in literature or curated databases.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005524 - ATP binding | • GO:0016887 - ATP hydrolysis activity |
| • GO:0006869 - lipid transport | • GO:0015908 - cholesterol efflux |
| • GO:0016021 - integral component of membrane |
Pathways
• ABC transporters (KEGG: hsa02010)
• Cholesterol metabolism (Reactome: R-HSA-191273)
Protein Summary
The ABCA8 protein is a 1,581-amino acid transmembrane transporter with two nucleotide-binding domains and two transmembrane domains. It functions as an ATP-dependent lipid flippase, facilitating the efflux of cholesterol and phospholipids. The protein is localized to the plasma membrane and endosomes, and its expression is regulated by liver X receptors (LXRs).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABCA8 Knockout HEK293 Cell Line | EDJ-KQ7019 | Human | 10351 | Details Get a Quote |
| ABCA8 Knockout HeLa Cell Line | EDJ-KQ55390 | Human | 10351 | Details Get a Quote |
| ABCA8 Knockout A-549 Cell Line | EDJ-KQ63870 | Human | 10351 | Details Get a Quote |
| ABCA8 Knockout HCT 116 Cell Line | EDJ-KQ72328 | Human | 10351 | Details Get a Quote |
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