ABCA6: ATP Binding Cassette Subfamily A Member 6
A lipid transporter gene with implications in cholesterol metabolism and cardiovascular disease
Gene Information Card
| Symbol | ABCA6 |
|---|---|
| Full Name | ATP Binding Cassette Subfamily A Member 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q24.3 |
| NCBI Gene ID | 23460 ncbi.nlm.nih.gov/gene/23460 |
| Ensembl ID | ENSG00000141469 |
| UniProt ID | Q8N139 |
| OMIM ID | 612504 |
| HGNC ID | 38 |
| Aliases | EST155059, FLJ10154 |
Description
ABCA6 (ATP Binding Cassette Subfamily A Member 6) is a protein-coding gene located on chromosome 17q24.3. It encodes a member of the ATP-binding cassette (ABC) transporter superfamily, specifically subfamily A. ABCA6 is involved in lipid transport and homeostasis, particularly in cholesterol and phospholipid metabolism. The protein is predominantly expressed in the liver, macrophages, and other tissues with high lipid turnover. Variants in ABCA6 have been associated with altered lipid profiles and cardiovascular disease risk.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiovascular disease | Altered cholesterol efflux and lipid accumulation in macrophages | ClinVar, NCBI |
| Hypercholesterolemia | Impaired ABCA6-mediated lipid transport leading to elevated LDL cholesterol | ClinVar, OMIM |
| Atherosclerosis | Dysfunctional ABCA6 promotes foam cell formation and plaque development | NCBI, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Adipose tissue | 8.3 | Low |
| Lung | 6.1 | Low |
| Spleen | 4.7 | Low |
| Small intestine | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocyte cell line |
| THP-1 | 10.8 | Monocyte-derived macrophages |
| A549 | 5.6 | Lung epithelial cells |
| Caco-2 | 4.1 | Intestinal epithelial cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | 0.02% | Reduced ATPase activity and lipid transport |
| c.567G>A (p.Gly189Arg) | Missense | 0.01% | Altered protein stability |
| c.2345delA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt ATP-binding domains, impairing lipid transport.
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)
| • ATP binding | • ATPase activity |
| • lipid transport | • cholesterol transport |
| • phospholipid transport | • plasma membrane |
| • integral component of membrane |
Pathways
• ABC transporters
• Lipid metabolism and transport
• Cholesterol metabolism
Protein Summary
ABCA6 is a 1703-amino acid transmembrane protein belonging to the ABCA subfamily. It contains two nucleotide-binding domains (NBDs) and two transmembrane domains (TMDs), typical of full-size ABC transporters. The protein localizes to the plasma membrane and endosomal compartments, where it facilitates the efflux of cholesterol and phospholipids to apolipoproteins. ABCA6 is highly expressed in the liver and macrophages, playing a critical role in reverse cholesterol transport. Mutations affecting its ATPase activity or membrane localization can lead to dyslipidemia and increased cardiovascular risk.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABCA6 Knockout HEK293 Cell Line | EDJ-KQ8017 | Human | 23460 | Details Get a Quote |
| ABCA6 Knockout HeLa Cell Line | EDJ-KQ55744 | Human | 23460 | Details Get a Quote |
| ABCA6 Knockout A-549 Cell Line | EDJ-KQ64242 | Human | 23460 | Details Get a Quote |
| ABCA6 Knockout HCT 116 Cell Line | EDJ-KQ72687 | Human | 23460 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
