Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 91452
MIM: 616618
HGNC: 23338
Ensembl: ENSG00000107897
Variants:
dbSNP: 91452
ClinVar: 91452
TCGA: ENSG00000107897
COSMIC: ACBD5
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Metabolism | REACTOME | R-HSA-1430728 |
| Metabolism of lipids and lipoproteins | REACTOME | R-HSA-556833 |
| Peroxisomal lipid metabolism | REACTOME | R-HSA-390918 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37414147 | 2023 | Differential roles for ACBD4 and ACBD5 in peroxisome-ER interactions and lipid metabolism. | 0 |
| 37414147 | 2023 | Differential roles for ACBD4 and ACBD5 in peroxisome-ER interactions and lipid metabolism. | 0 |
| 34668366 | 2022 | Newly defined peroxisomal disease with novel ACBD5 mutation. | 6 |
| 35019937 | 2022 | Regulating peroxisome-ER contacts via the ACBD5-VAPB tether by FFAT motif phosphorylation and GSK3β. | 18 |
| 34668366 | 2022 | Newly defined peroxisomal disease with novel ACBD5 mutation. | 6 |
| 35019937 | 2022 | Regulating peroxisome-ER contacts via the ACBD5-VAPB tether by FFAT motif phosphorylation and GSK3β. | 18 |
| 33427402 | 2021 | First reported adult patient with retinal dystrophy and leukodystrophy caused by a novel ACBD5 variant: A case report and review of literature. | 10 |
| 33427402 | 2021 | First reported adult patient with retinal dystrophy and leukodystrophy caused by a novel ACBD5 variant: A case report and review of literature. | 10 |
| 30589881 | 2018 | Intracellular redistribution of neuronal peroxisomes in response to ACBD5 expression. | 10 |
| 30589881 | 2018 | Intracellular redistribution of neuronal peroxisomes in response to ACBD5 expression. | 10 |
| 27899449 | 2017 | Deficiency of a Retinal Dystrophy Protein, Acyl-CoA Binding Domain-containing 5 (ACBD5), Impairs Peroxisomal β-Oxidation of Very-long-chain Fatty Acids. | 43 |
| 28108524 | 2017 | ACBD5 and VAPB mediate membrane associations between peroxisomes and the ER. | 119 |
| 28108526 | 2017 | VAPs and ACBD5 tether peroxisomes to the ER for peroxisome maintenance and lipid homeostasis. | 132 |
| 27899449 | 2017 | Deficiency of a Retinal Dystrophy Protein, Acyl-CoA Binding Domain-containing 5 (ACBD5), Impairs Peroxisomal β-Oxidation of Very-long-chain Fatty Acids. | 43 |
| 28108524 | 2017 | ACBD5 and VAPB mediate membrane associations between peroxisomes and the ER. | 119 |
Citation
Dessen P
ACBD5 (acyl-CoA binding domain containing 5)
Atlas Genet Cytogenet Oncol Haematol. 2015-11-01
Online version: http://atlasgeneticsoncology.org/gene/55508/acbd5-(acyl-coa-binding-domain-containing-5)
