10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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33PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLETransporter
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
ATPase-coupled transmembrane transporter activityfatty acid beta-oxidationprotein homodimerization activityperoxisomecervical carcinomapulmonary vascular congestionAlzheimer diseaseinfection
ABCD2 (ATP binding cassette subfamily D member 2) is an ATP-dependent transporter that facilitates the transport of very long-chain fatty acids (VLCFAs) from the cytosol into peroxisomes for β-oxidation 12. The protein functions by hydrolyzing VLCFA-CoA substrates through its fatty acyl-CoA thioesterase activity, then transporting the free VLCFAs into peroxisomes in an ATP-dependent manner 2. ABCD2 shows overlapping substrate specificities with the related transporter ABCD1 but has distinct preferences for shorter VLCFAs (C22:0) and polyunsaturated fatty acids such as C22:6-CoA and C24:6-CoA 1. This substrate specificity positions ABCD2 as a key regulator of VLCFA metabolism and energy homeostasis through peroxisomal β-oxidation 1. ABCD2 has therapeutic relevance for X-linked adrenoleukodystrophy, where upregulation of ABCD2 expression can compensate for deficient ABCD1 function and restore peroxisomal β-oxidation capacity 3. The gene's expression can be induced by various compounds including LXR antagonists and 22S-hydroxycholesterol, making it a potential therapeutic target for neurodegenerative disorders involving peroxisomal dysfunction 3. Note: Several abstracts discuss the ABCD2 clinical scoring system for stroke risk, which is unrelated to this gene.
1
ABCD2 is involved in VLCFA transport and has distinct substrate preferences for shorter VLCFAs and polyunsaturated fatty acids
PMID: 211454162
ABCD2 has fatty acyl-CoA thioesterase and ATPase activities and transports VLCFAs in an ATP-dependent manner
PMID: 293979363
ABCD2 upregulation can compensate for ABCD1 deficiency in X-linked adrenoleukodystrophy and can be induced by LXR antagonists and oxysterols
PMID: 24480443⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
cervical carcinomaOpen Targets
pulmonary vascular congestionOpen Targets
Alzheimer diseaseOpen Targets
X-linked adrenoleukodystrophyOpen Targets
gastric ulcerOpen Targets
spinocerebellar ataxia type 17Open Targets
transient ischemic attackOpen Targets
behavioral variant of frontotemporal dementiaOpen Targets
amyotrophic lateral sclerosisOpen Targets
familial amyotrophic lateral sclerosisOpen Targets
inherited Creutzfeldt-Jakob diseaseOpen Targets
spinocerebellar ataxia type 35Open Targets
adrenoleukodystrophyOpen Targets
Young adult-onset ParkinsonismOpen Targets
spastic ataxia 2Open Targets
spinocerebellar ataxia type 12Open Targets
spastic ataxia 10, autosomal recessiveOpen Targets
No pathogenic variants reported on ClinVar for this gene.