ACBD4: Acyl-CoA Binding Domain Containing 4
Gene encoding a putative acyl-CoA binding protein involved in intracellular lipid transport and metabolism.
Gene Information Card
| Symbol | ACBD4 |
|---|---|
| Full Name | Acyl-CoA Binding Domain Containing 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 79877 ncbi.nlm.nih.gov/gene/79877 |
| Ensembl ID | ENSG00000108797 |
| UniProt ID | Q8N3Z0 |
| OMIM ID | 616155 |
| HGNC ID | 21268 |
| Aliases | MGC13170, dJ1033B10.2 |
Description
ACBD4 (Acyl-CoA Binding Domain Containing 4) is a protein-coding gene located on chromosome 17q21.31. The encoded protein contains an acyl-CoA binding domain, suggesting a role in intracellular lipid transport and metabolism. ACBD4 is broadly expressed in various tissues, with highest levels in the liver and kidney. Its precise biological function remains under investigation, but it is implicated in cellular lipid homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association confirmed | Not established | No curated evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 9.8 | Medium |
| Heart | 6.2 | Low |
| Brain | 4.1 | Low |
| Lung | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK293 | 8.7 | Embryonic kidney cells |
| A549 | 5.1 | Lung carcinoma cell line |
| K562 | 2.3 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants curated | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function variants in ClinVar or COSMIC.
Gain of Function (GOF)
No documented gain-of-function variants.
Dominant Negative (DN)
No documented dominant-negative variants.
View complete mutation data：
Gene Ontology (GO)
| • GO:0000062 - acyl-CoA binding | • GO:0005737 - cytoplasm |
| • GO:0005783 - endoplasmic reticulum | • GO:0006629 - lipid metabolic process |
Pathways
• No specific pathways curated in Reactome or KEGG for ACBD4.
Protein Summary
The ACBD4 protein (UniProt Q8N3Z0) is a 317-amino acid polypeptide containing a conserved acyl-CoA binding domain. It is predicted to localize to the cytoplasm and endoplasmic reticulum, where it may bind and transport acyl-CoA esters. Structural analysis suggests a role in lipid metabolism, but functional validation is limited.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACBD4 Knockout HEK293 Cell Line | EDJ-KQ12255 | Human | 79777 | Details Get a Quote |
| ACBD4 Knockout A-549 Cell Line | EDJ-KQ41045 | Human | 79777 | Details Get a Quote |
| ACBD4 Knockout HCT 116 Cell Line | EDJ-KQ41046 | Human | 79777 | Details Get a Quote |
| ACBD4 Knockout HeLa Cell Line | EDJ-KQ41047 | Human | 79777 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
