protein
Acyl-CoA-binding domain-containing protein 6
Gene
ACBD6
Organism
Homo sapiens(9606)
Length
282 aa
Mass
31,151 Da
ACBD6 is an acyl-CoA-binding protein that selectively binds long-chain acyl-CoA molecules, with highest affinity for unsaturated C18:1-CoA and lower affinity for polyunsaturated C20:4-CoA. It plays a role in protein N-myristoylation (UniProt: Q9BR61). The protein is expressed in human tissues where lipid metabolism and post-translational acylation processes occur.
Beyond its metabolic function, ACBD6 is associated with neurodevelopmental disorder with progressive movement abnormalities (NEDPM, MIM 620785), an autosomal recessive condition featuring developmental delay, intellectual disability, movement disorders including dystonia and ataxia, seizures, and brain imaging abnormalities (UniProt: Q9BR61).
In Alzheimer's disease, ACBD6 is significantly down-regulated in post-mortem AD brain tissue compared to age-matched controls, with a mean log2 fold-change of −0.29 (Chaparral AD proteomics). This reduction suggests impaired lipid-CoA metabolism or N-myristoylation capacity may contribute to AD pathology, though the mechanistic role remains to be determined.
Generated from the curated entity record below. May contain errors — verify against source links.
Proteomics Evidence · AD
↓ Down in ADP3
-0.292
P2
not detected
S2
not detected
S3
not detected
Mean log₂FC across detected fractions: -0.2916 (1 of 4 fractions detected)
Human post-mortem AD brain vs age-matched controls, TMT-labeled, 4 subcellular fractions (P2, P3, S2, S3), DDA proteomics.
Related Publications
Browse all →Tau molecular diversity contributes to clinical heterogeneity in Alzheimer's disease.
Dujardin Simon et al.Nature medicine2020PMID 32572268Deep Multilayer Brain Proteomics Identifies Molecular Networks in Alzheimer's Disease Progression.
Bai Bing et al.Neuron2020PMID 31926610A Multi-network Approach Identifies Protein-Specific Co-expression in Asymptomatic and Symptomatic Alzheimer's Disease.
Seyfried Nicholas T et al.Cell systems2017PMID 27989508Large-scale deep multi-layer analysis of Alzheimer's disease brain reveals strong proteomic disease-related changes not observed at the RNA level.
Johnson Erik C B et al.Nature neuroscience2022PMID 35115731Organization and regulation of gene transcription.
Cramer PatrickNature2019PMID 31462772
Function
Binds long-chain acyl-coenzyme A molecules with a strong preference for unsaturated C18:1-CoA, lower affinity for unsaturated C20:4-CoA, and very weak affinity for saturated C16:0-CoA. Does not bind fatty acids. Plays a role in protein N-myristoylation (PubMed:37951597)
Disease associations
Neurodevelopmental disorder with progressive movement abnormalitiesNEDPM
An autosomal recessive, progressive disorder characterized by global developmental delay, intellectual disability, significant expressive language impairment, behavioral abnormalities, and movement disorders including dystonia, spasticity and cerebellar ataxia associated with gait impairment. Additional features include facial dysmorphism, oculomotor anomalies, microcephaly, seizures and brain imaging abnormalities. Parkinsonism may develop in older patients.
Sources
Last updated 5/8/2026, 6:38:08 AM