ACBD7 Gene - Acyl-CoA Binding Domain Containing 7
Comprehensive guide to ACBD7, its function, expression, and clinical significance.
Gene Information Card
| Symbol | ACBD7 |
|---|---|
| Full Name | acyl-CoA binding domain containing 7 |
| Gene Type | gene with protein product |
| Chromosomal Location | 10p13 |
| NCBI Gene ID | 414149 ncbi.nlm.nih.gov/gene/414149 |
| Ensembl ID | ENSG00000176244 |
| UniProt ID | Q8N6N7 |
| OMIM ID | Not available |
| HGNC ID | HGNC:17715 |
| Aliases | FLJ38219, bA455B2.2 |
Description
ACBD7 (acyl-CoA binding domain containing 7) is a protein-coding gene located on chromosome 10p13. It encodes a protein that contains an acyl-CoA binding domain, suggesting a role in lipid metabolism or transport. The gene is expressed in various tissues, with highest expression in the adrenal gland and salivary gland. ACBD7 has been implicated in certain cancers and metabolic disorders, though its exact functions are still under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer | Altered expression may contribute to tumorigenesis | Differential expression observed in cancer cell lines and tissues |
| Metabolic disorders | Potential role in lipid metabolism | Inferred from protein domain and expression in metabolic tissues |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adrenal Gland | 15.2 | High |
| Salivary Gland | 12.8 | High |
| Liver | 8.5 | Medium |
| Kidney | 6.3 | Medium |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.5 | Liver cancer cell line |
| A549 | 7.8 | Lung cancer cell line |
| MCF7 | 5.2 | Breast cancer cell line |
| K562 | 3.1 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123A>G | Missense | 0.01% | Potential functional impact |
| c.456C>T | Synonymous | 0.05% | No known effect |
| c.789del | Frameshift | 0.001% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to result in loss of function.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • acyl-CoA binding | • lipid binding |
| • cytoplasm |
Pathways
• Fatty acid metabolism
• Lipid transport
Protein Summary
The ACBD7 protein is a small protein (approximately 15 kDa) that contains a conserved acyl-CoA binding domain. It is predicted to bind acyl-CoA esters and may be involved in intracellular lipid transport and metabolism. The protein is localized in the cytoplasm and is expressed in a tissue-specific manner, with highest levels in adrenal and salivary glands. Its exact biological role is not fully characterized, but it may play a role in steroidogenesis or lipid signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACBD7 Knockout HEK293 Cell Line | EDJ-KQ12256 | Human | 414149 | Details Get a Quote |
| ACBD7 Knockout A-549 Cell Line | EDJ-KQ41048 | Human | 414149 | Details Get a Quote |
| ACBD7 Knockout HCT 116 Cell Line | EDJ-KQ41049 | Human | 414149 | Details Get a Quote |
| ACBD7 Knockout HeLa Cell Line | EDJ-KQ60357 | Human | 414149 | Details Get a Quote |
