ABCB7

Chr XX-linked

ATP binding cassette subfamily B member 7

Also known as: ABC7, ASAT, Atm1p, EST140535

NCBI Gene: 22ENSG00000131269UniProt: O75027

The protein exports iron-sulfur clusters from mitochondria to cytosol in an ATP-dependent manner and participates in iron homeostasis and heme biosynthesis. Loss-of-function mutations cause X-linked sideroblastic anemia with ataxia due to impaired iron-sulfur cluster biogenesis and disrupted cellular iron homeostasis. The gene is highly intolerant to loss-of-function variation, consistent with X-linked inheritance.

Summary from RefSeq, OMIM, UniProt, Mechanism

Primary Disease Associations & Inheritance

Anemia, sideroblastic, with ataxiaMIM #301310
X-linked
UniProtSpinocerebellar ataxia, X-linked 6, with or without sideroblastic anemia
0
Active trials
12
Pubs (1 yr)
18
P/LP submissions
19%
P/LP missense
0.11
LOEUF· LoF intol.
LOF
Mechanism· predicted
Clinical Summary— ABCB7
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Gene-Disease Validity (ClinGen)
mitochondrial disease · XLModerate

Moderate evidence — consider for supplementary testing

⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
16 unique Pathogenic / Likely Pathogenic· 98 VUS of 300 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.11LOEUF
pLI 1.000
Z-score 4.86
OE 0.00 (0.00–0.11)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint
2.90Z-score
OE missense 0.51 (0.45–0.59)
145 obs / 282.3 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.00 (0.00–0.11)
0≤0.351.4
Missense OE0.51 (0.45–0.59)
0≤0.61.4
Synonymous OE1.01
0≤1.21.6
LoF obs/exp: 0 / 27.5Missense obs/exp: 145 / 282.3Syn Z: -0.10
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
definitiveABCB7-related anemia, sideroblastic, with ataxiaOTHERXLR
DN
0.5280th %ile
GOF
0.5366th %ile
LOF
0.65top 25%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.11

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

300 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic12
Likely Pathogenic4
VUS98
Likely Benign60
Benign17
Conflicting2
12
Pathogenic
4
Likely Pathogenic
98
VUS
60
Likely Benign
17
Benign
2
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
12
0
12
Likely Pathogenic
0
3
1
0
4
VUS
0
91
6
1
98
Likely Benign
0
6
21
33
60
Benign
0
6
3
8
17
Conflicting
—2
Total01064342193

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

View in ClinVar →

Protein Context — Lollipop Plot

ABCB7 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 4 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients