ACBD5
Acyl-CoA Binding Domain Containing 5
Gene Information Card
| Symbol | ACBD5 |
|---|---|
| Full Name | Acyl-CoA Binding Domain Containing 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 10p12.1 |
| NCBI Gene ID | 91452 ncbi.nlm.nih.gov/gene/91452 |
| Ensembl ID | ENSG00000120063 |
| UniProt ID | Q5T8D4 |
| OMIM ID | 616618 |
| HGNC ID | 23338 |
| Aliases | FLJ10706, MGC131895 |
Description
ACBD5 encodes a peroxisomal membrane protein containing an acyl-CoA binding domain. It is involved in very long-chain fatty acid (VLCFA) metabolism and peroxisome-endoplasmic reticulum contact sites. Mutations in ACBD5 cause a peroxisomal disorder characterized by retinal dystrophy, leukodystrophy, and progressive neurological impairment.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Peroxisomal acyl-CoA oxidase deficiency (pseudo-neonatal adrenoleukodystrophy) | Loss of ACBD5 function disrupts VLCFA beta-oxidation, leading to accumulation of VLCFAs and peroxisomal dysfunction. | OMIM #616618; ClinVar |
| Retinal dystrophy with leukodystrophy | Impaired peroxisome-ER contact sites due to ACBD5 deficiency affect lipid homeostasis and myelin maintenance. | OMIM #616618; PubMed: 28165322 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Liver | 4.8 | Low |
| Retina | 6.1 | Medium |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.5 | Low expression |
| SH-SY5Y | 5.8 | Medium expression |
| HepG2 | 4.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.355C>T (p.Arg119*) | Nonsense | Rare | Loss of function; truncated protein |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no protein translation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to absent or non-functional ACBD5 protein, impairing peroxisomal VLCFA oxidation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005777 (peroxisome) | • GO:0000062 (acyl-CoA binding) |
| • GO:0033540 (fatty acid beta-oxidation using acyl-CoA oxidase) | • GO:0016021 (integral component of membrane) |
Pathways
• Peroxisomal beta-oxidation of VLCFAs
• Peroxisome-ER contact site formation
Protein Summary
ACBD5 is a 506-amino acid peroxisomal membrane protein with an N-terminal acyl-CoA binding domain. It anchors peroxisomes to the endoplasmic reticulum via interaction with VAPB, facilitating lipid transfer and VLCFA metabolism. Loss of function leads to peroxisomal dysfunction and neurological disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACBD5 Knockout HEK293 Cell Line | EDJ-KQ10739 | Human | 91452 | Details Get a Quote |
| ACBD5 Knockout A-549 Cell Line | EDJ-KQ38326 | Human | 91452 | Details Get a Quote |
| ACBD5 Knockout HCT 116 Cell Line | EDJ-KQ38327 | Human | 91452 | Details Get a Quote |
| ACBD5 Knockout HeLa Cell Line | EDJ-KQ38328 | Human | 91452 | Details Get a Quote |
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