ABCB8

Chr 7

ATP binding cassette subfamily B member 8

Also known as: EST328128, M-ABC1, MABC1, MITOSUR

NCBI Gene: 11194ENSG00000197150UniProt: Q9NUT2

This nuclear gene encodes a multi-pass membrane protein that is targeted to the mitochondrial inner membrane. The encoded protein is an ATP-dependent transporter that may mediate the passage of organic and inorganic molecules out of the mitochondria. Loss of function of the related gene in mouse results in a disruption of iron homeostasis between the mitochondria and cytosol. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

207
ClinVar variants
72
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— ABCB8
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
72 Pathogenic / Likely Pathogenic· 116 VUS of 207 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.08LOEUF
pLI 0.000
Z-score 1.18
OE 0.78 (0.58–1.08)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.30Z-score
OE missense 0.96 (0.89–1.04)
452 obs / 470.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.78 (0.58–1.08)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.96 (0.89–1.04)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.91
0≤1.21.6
LoF obs/exp: 27 / 34.5Missense obs/exp: 452 / 470.2Syn Z: 1.05

ClinVar Variant Classifications

207 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic68
Likely Pathogenic4
VUS116
Likely Benign11
Benign8
68
Pathogenic
4
Likely Pathogenic
116
VUS
11
Likely Benign
8
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
68
0
68
Likely Pathogenic
0
0
4
0
4
VUS
0
108
8
0
116
Likely Benign
0
8
0
3
11
Benign
0
3
1
4
8
Total0119817207

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

ABCB8 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Definition of mutations in polyautoimmunity.
Johar A et al.·J Autoimmun
2016
Long non-coding RNA NEAT1 promotes multiple myeloma malignant transformation via targeting miR-485-5p/ABCB8.
Xu Y et al.·Hematology
2024
Involvement of ABC transporters in melanogenesis and the development of multidrug resistance of melanoma.
Chen KG et al.·Pigment Cell Melanoma Res
2009Review
Comprehensive Analysis of the ATP-binding Cassette Subfamily B Across Renal Cancers Identifies ABCB8 Overexpression in Phenotypically Aggressive Clear Cell Renal Cell Carcinoma.
Blajan I et al.·Eur Urol Focus
2021
ABCB8 mediates doxorubicin resistance in melanoma cells by protecting the mitochondrial genome.
Elliott AM et al.·Mol Cancer Res
2009
Plasma-Derived Exosomal hsa-miR-3677-3p Induces Ferroptosis in Neurons by Targeting ABCB8 in Perioperative Neurocognitive Disorders After Prostate Surgery.
Sun Y et al.·Neurochem Res
2026
Iron overload in hereditary spherocytosis: Are genetic factors the cause?
Donaty L et al.·Br J Haematol
2026
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools