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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ACBD5
acyl-CoA binding domain containing 5
Chromosome 10 Β· 10p12.1
NCBI Gene: 91452Ensembl: ENSG00000107897.20HGNC: HGNC:23338UniProt: A0A7I2V2M2
62PubMed Papers
21Diseases
0Drugs
24Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
membranepexophagyperoxisomefatty-acyl-CoA bindingretinal dystrophy with leukodystrophyacyl-CoA binding domain containing protein 5 deficiencyhyperinsulinemic hypoglycemia, familial, 4retinopathy
✦AI Summary

ACBD5 (acyl-CoA binding domain containing 5) is a peroxisomal membrane protein that serves as a critical tethering factor for peroxisome-endoplasmic reticulum (ER) membrane contact sites and facilitates inter-organellar communication. ACBD5 interacts with ER-resident VAMP-associated proteins (VAPA and VAPB) to form the primary tether connecting peroxisomes to the ER 1. This tethering function is essential for peroxisome maintenance, growth, and lipid homeostasis, including the synthesis of plasmalogen phospholipids and maintenance of cellular cholesterol levels 1. Additionally, ACBD5 forms contacts with mitochondria through interaction with PTPIP51, facilitating ROS transfer from mitochondria to peroxisomes during oxidative stress 2. While ACBD5 acts as the primary tether for very long-chain fatty acid recruitment to peroxisomes, it is not absolutely required for efficient peroxisomal Ξ²-oxidation 3. Loss-of-function mutations in ACBD5 cause a rare peroxisomal disorder characterized by retinal dystrophy with leukodystrophy, presenting with rod monochromatism, progressive leukodystrophy, spasticity, ataxia, and potentially additional features including ovarian insufficiency 45. This disorder demonstrates the critical role of peroxisome-ER contacts in human health.

Sources cited
1
ACBD5 interacts with VAP proteins to form ER-peroxisome tethers essential for organelle maintenance and lipid homeostasis
PMID: 28108526
2
ACBD5 forms peroxisome-mitochondria contacts with PTPIP51 for ROS transfer during oxidative stress
PMID: 40638754
3
ACBD5 acts as primary tether for VLCFA recruitment but is not absolutely required for peroxisomal Ξ²-oxidation
PMID: 37414147
4
ACBD5 mutations identified as novel candidate disease gene in retinal dystrophy families
PMID: 23105016
5
ACBD5 mutations cause retinal dystrophy with leukodystrophy, including additional features like ovarian insufficiency
PMID: 37789430
Disease Associationsβ“˜21
retinal dystrophy with leukodystrophyOpen Targets
0.69Moderate
acyl-CoA binding domain containing protein 5 deficiencyOpen Targets
0.46Moderate
hyperinsulinemic hypoglycemia, familial, 4Open Targets
0.37Weak
retinopathyOpen Targets
0.34Weak
benign digestive system neoplasmOpen Targets
0.26Weak
Alzheimer diseaseOpen Targets
0.25Weak
fracture of pelvisOpen Targets
0.23Weak
poisoningOpen Targets
0.23Weak
response to xenobiotic stimulusOpen Targets
0.22Weak
genetic disorderOpen Targets
0.19Weak
ThrombocytopeniaOpen Targets
0.19Weak
Retinal dystrophyOpen Targets
0.14Weak
Cone rod dystrophyOpen Targets
0.14Weak
cone-rod dystrophyOpen Targets
0.14Weak
scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalitiesOpen Targets
0.12Weak
myopiaOpen Targets
0.09Suggestive
Peroxisome biogenesis disorder-Zellweger syndrome spectrumOpen Targets
0.04Suggestive
Zellweger spectrum disordersOpen Targets
0.04Suggestive
infectionOpen Targets
0.04Suggestive
hereditary motor and sensory neuropathy, Okinawa typeOpen Targets
0.04Suggestive
Retinal dystrophy with leukodystrophyUniProt
Pathogenic Variants24
NM_145698.5(ACBD5):c.1297C>T (p.Arg433Ter)Pathogenic
not provided|Retinal disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 433
NM_145698.5(ACBD5):c.51del (p.Cys18fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 18
NM_145698.5(ACBD5):c.181+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_145698.5(ACBD5):c.1515G>A (p.Trp505Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 505
NM_145698.5(ACBD5):c.667G>T (p.Glu223Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 223
NM_145698.5(ACBD5):c.1210dup (p.Arg404fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 404
NM_145698.5(ACBD5):c.70_73del (p.Arg24fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 24
NM_145698.5(ACBD5):c.1159C>T (p.Arg387Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 387
NM_145698.5(ACBD5):c.491-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_145698.5(ACBD5):c.936+1G>ALikely pathogenic
Retinal dystrophy with leukodystrophy
β˜…β˜†β˜†β˜†2023
NM_145698.5(ACBD5):c.1405-2A>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_145698.5(ACBD5):c.829+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_145698.5(ACBD5):c.1246C>T (p.Gln416Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 416
NM_145698.5(ACBD5):c.460_461del (p.Lys154fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 154
NM_145698.5(ACBD5):c.317C>A (p.Ser106Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 106
NM_145698.5(ACBD5):c.303-2A>CLikely pathogenic
not provided|Familial cancer of breast
β˜…β˜†β˜†β˜†2022
NM_145698.5(ACBD5):c.10del (p.Leu4fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 4
NM_145698.5(ACBD5):c.78G>A (p.Trp26Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 26
NM_145698.5(ACBD5):c.462del (p.Ser155fs)Likely pathogenic
Retinal dystrophy with leukodystrophy
β˜…β˜†β˜†β˜†2022β†’ Residue 155
NM_145698.5(ACBD5):c.937-1delLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2021
View on ClinVar β†—
Related Genes
VAPAProtein interaction100%PEX5Protein interaction86%ABCD1Protein interaction77%PEX13Protein interaction77%PEX14Protein interaction77%PEX19Protein interaction77%
Tissue Expression6 tissues
Heart
100%
Brain
56%
Liver
54%
Bone Marrow
34%
Lung
16%
Ovary
11%
Gene Interaction Network
Click a node to explore
ACBD5VAPAPEX5ABCD1PEX13PEX14PEX19
PROTEIN STRUCTURE
Preparing viewer…
PDB3FLV Β· 1.70 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.73LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.56 [0.43–0.73]
RankingsWhere ACBD5 stands among ~20K protein-coding genes
  • #7,426of 20,598
    Most Researched62
  • #2,020of 5,498
    Most Pathogenic Variants24
  • #5,724of 17,882
    Most Constrained (LOEUF)0.73
Genes detectedACBD5
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
ROS transfer at peroxisome-mitochondria contact regulates mitochondrial redox.
PMID: 40638754
Science Β· 2025
1.00
2
Differential roles for ACBD4 and ACBD5 in peroxisome-ER interactions and lipid metabolism.
PMID: 37414147
J Biol Chem Β· 2023
0.90
3
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.
PMID: 23105016
Genome Res Β· 2013
0.80
4
Metabolome-Based Genome-Wide Association Study of Duck Meat Leads to Novel Genetic and Biochemical Insights.
PMID: 37013465
Adv Sci (Weinh) Β· 2023
0.70
5
Restructured membrane contacts rewire organelles for human cytomegalovirus infection.
PMID: 35953480
Nat Commun Β· 2022
0.60