AlphaFold predicted structure
ACBD5 · Q5T8D3
Mean pLDDT
56.7/ 100
Low
534 residues
Confidence breakdown
- Very high(≥ 90)15%
- Confident(70–90)13%
- Low(50–70)17%
- Very low(< 50)56%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
ACBD5
Chr 10p12.1acyl-CoA binding domain containing 5
- Aliases:
- DKFZp434A2417, KIAA1996
- MANE:
- ENST00000396271.8
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalInherited white matter disorders
BIALLELIC, autosomal or pseudoautosomalPeroxisomal disorders
BIALLELIC, autosomal or pseudoautosomalRetinal disorders
BIALLELIC, autosomal or pseudoautosomalWhite matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalClefting
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
retinal dystrophy with leukodystrophy
0.70acyl-CoA binding domain containing protein 5 deficiency
0.46hyperinsulinemic hypoglycemia, familial, 4
0.37retinal disorder
0.34Alzheimer disease
0.25benign digestive system neoplasm
0.24response to xenobiotic stimulus
0.22poisoning
0.22fracture of pelvis
0.22hereditary disease
0.19
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Acyl-CoA-binding domain-containing protein 5
Acyl-CoA binding protein which acts as the peroxisome receptor for pexophagy but is dispensable for aggrephagy and nonselective autophagy. Binds medium- and long-chain acyl-CoA esters
Diseases associated with ACBD5
Curated MONDO disease pages that list ACBD5 among their top associated genes.