ACBD6: Acyl-CoA Binding Domain Containing 6
Gene encoding a putative acyl-CoA binding protein involved in lipid metabolism and cellular signaling.
Gene Information Card
| Symbol | ACBD6 |
|---|---|
| Full Name | Acyl-CoA Binding Domain Containing 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q23.3 |
| NCBI Gene ID | 84320 ncbi.nlm.nih.gov/gene/84320 |
| Ensembl ID | ENSG00000163026 |
| UniProt ID | Q9BRT8 |
| OMIM ID | 616154 |
| HGNC ID | 23387 |
| Aliases | MGC13170, dJ90G24.4 |
Description
ACBD6 encodes a protein containing an acyl-CoA binding domain, which is involved in the binding and transport of long-chain acyl-CoA esters. The protein may play a role in lipid metabolism, membrane trafficking, and cellular signaling. Expression is observed in various tissues, with highest levels in the liver and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Potential role in lipid metabolism dysregulation; altered expression observed in tumor tissues. | NCBI Gene, PubMed |
| Colorectal cancer | Differential expression reported; possible involvement in cancer cell metabolism. | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Heart | 5.1 | Low |
| Brain | 2.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocellular carcinoma cell line |
| HEK293 | 6.7 | Embryonic kidney cells |
| HeLa | 4.5 | Cervical cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.347G>A (p.Arg116His) | Missense | <0.01% | Unknown functional impact |
| c.521C>T (p.Pro174Leu) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0000062 - acyl-CoA binding | • GO:0005737 - cytoplasm |
| • GO:0005515 - protein binding |
Pathways
• Fatty acid metabolism
• PPAR signaling pathway
Protein Summary
The ACBD6 protein (UniProt Q9BRT8) is a 317-amino acid protein that contains an acyl-CoA binding domain. It is predicted to bind long-chain acyl-CoA esters and may function in intracellular lipid transport and signaling. The protein is localized to the cytoplasm and is expressed in multiple tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACBD6 Knockout HEK293 Cell Line | EDJ-KQ9284 | Human | 84320 | Details Get a Quote |
| ACBD6 Knockout A-549 Cell Line | EDJ-KQ37120 | Human | 84320 | Details Get a Quote |
| ACBD6 Knockout HCT 116 Cell Line | EDJ-KQ37121 | Human | 84320 | Details Get a Quote |
| ACBD6 Knockout HeLa Cell Line | EDJ-KQ37122 | Human | 84320 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
