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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ABCB8
ATP binding cassette subfamily B member 8
Chromosome 7 · 7q36.1
NCBI Gene: 11194Ensembl: ENSG00000197150.14HGNC: HGNC:49UniProt: Q9NUT2
45PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingATP bindingcell volume homeostasispotassium ion transmembrane transportneurodegenerative diseasepoisoninghypertensionessential hypertension
✦AI Summary

ABCB8 is a mitochondrial ATP-binding cassette transporter that functions as the ATP-binding subunit of the mitochondrial ATP-gated potassium channel (mitoK(ATP)), working alongside the pore-forming subunit CCDC51/MITOK to mediate ATP-dependent potassium currents across the mitochondrial inner membrane 1. The channel is inhibited by elevated ATP levels and activated during ATP depletion, regulating potassium uptake into the mitochondrial matrix 1. Beyond ion transport, ABCB8 serves as a critical mitochondrial iron exporter 2. Overexpression of ABCB8 in cardiomyocytes and transgenic mouse hearts decreased mitochondrial iron accumulation and protected against doxorubicin-induced cardiotoxicity 2. In endothelial cells, ABCB8 prevents iron-dependent oxidative stress through a newly identified ABCB8-iron-TGF-β axis; loss of endothelial ABCB8 triggered pro-inflammatory transcriptional reprogramming and exacerbated atherosclerosis and hypertension in apoE knockout mice 3. Clinically, ABCB8 dysregulation associates with multiple pathologies. Doxorubicin-induced cardiomyopathy patients exhibited markedly elevated mitochondrial iron levels 2. ABCB8 variants link to polyautoimmunity through apoptotic regulation pathways 4. In multiple myeloma, the NEAT1/miR-485-5p/ABCB8 axis promotes malignant progression 5, while ABCB8 contributes to multidrug resistance in melanoma 6.

Sources cited
1
ABCB8 is the ATP-binding subunit of mitochondrial ATP-gated potassium channel and mediates ATP-dependent potassium transport
PMID: 31435016
2
ABCB8 facilitates mitochondrial iron export; overexpression protects against doxorubicin-induced cardiotoxicity by reducing mitochondrial iron
PMID: 24382354
3
ABCB8 prevents endothelial dysfunction through iron-dependent TGF-β signaling; deficiency exacerbates atherosclerosis and hypertension
PMID: 41252867
4
ABCB8 variants show genetic linkage to polyautoimmunity and contribute to regulation of apoptotic processes
PMID: 27209085
5
ABCB8 is targeted by the NEAT1/miR-485-5p axis in multiple myeloma progression
PMID: 39475764
6
ABCB8 expression in melanoma cells contributes to multidrug resistance
PMID: 19725928
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.40Weak
poisoningOpen Targets
0.15Weak
hypertensionOpen Targets
0.04Suggestive
essential hypertensionOpen Targets
0.03Suggestive
Increased blood pressureOpen Targets
0.03Suggestive
cardiovascular diseaseOpen Targets
0.02Suggestive
heart failureOpen Targets
0.02Suggestive
response to xenobiotic stimulusOpen Targets
0.02Suggestive
atherosclerosisOpen Targets
0.02Suggestive
cardiomyopathyOpen Targets
0.01Suggestive
clear cell renal carcinomaOpen Targets
0.01Suggestive
melanomaOpen Targets
0.01Suggestive
pancreatic adenocarcinomaOpen Targets
0.01Suggestive
Treacher-Collins syndromeOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
head and neck squamous cell carcinomaOpen Targets
0.01Suggestive
non-alcoholic steatohepatitisOpen Targets
0.01Suggestive
vascular diseaseOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CCDC51Protein interaction100%SLC25A28Protein interaction83%SLC25A37Protein interaction77%ABCA2Protein interaction76%ATP1A1Protein interaction76%ATP1A2Protein interaction76%
Tissue Expression6 tissues
Liver
100%
Ovary
77%
Bone Marrow
64%
Lung
53%
Heart
50%
Brain
30%
Gene Interaction Network
Click a node to explore
ABCB8CCDC51SLC25A28SLC25A37ABCA2ATP1A1ATP1A2
PROTEIN STRUCTURE
Preparing viewer…
PDB5OCH · 3.40 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.89LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.71 [0.57–0.89]
RankingsWhere ABCB8 stands among ~20K protein-coding genes
  • #9,405of 20,598
    Most Researched45
  • #8,038of 17,882
    Most Constrained (LOEUF)0.89
Genes detectedABCB8
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Cardiotoxicity of doxorubicin is mediated through mitochondrial iron accumulation.
PMID: 24382354
J Clin Invest · 2014
1.00
2
ATP-binding cassette B8 prevents endothelial dysfunction and atherosclerosis.
PMID: 41252867
Redox Biol · 2025
0.90
3
Mithramycin A suppresses expression of the human melanoma-associated gene ABCB8.
PMID: 21046154
Mol Genet Genomics · 2011
0.80
4
Cryo-EM structure of human ABCB8 transporter in nucleotide binding state.
PMID: 33872987
Biochem Biophys Res Commun · 2021
0.70
5
Definition of mutations in polyautoimmunity.
PMID: 27209085
J Autoimmun · 2016
0.60