GENE REFERENCE / HGNC:48

ABCB7

ATP binding cassette subfamily B member 7

protein-coding geneXq13.3Gene information

What does this gene do?

The ABCB7 gene provides instructions for making a protein known as an ATP-binding cassette (ABC) transporter. ABC transporter proteins carry many types of molecules across cell membranes.

The ABCB7 protein is located in the inner membrane of cell structures called mitochondria. Mitochondria are the energy-producing centers of cells, but they are also involved in a variety of cellular activities, including chemical signaling and the regulation of cell growth and division.

In the mitochondria of developing red blood cells (erythroblasts), the ABCB7 protein plays a critical role in the production of heme. Heme contains iron and is required for cell processes such as energy production and molecule transport. Most importantly, heme is a component of hemoglobin, the protein that carries oxygen in the blood.

The ABCB7 protein is also involved in the formation of clusters of iron and sulfur atoms (Fe-S clusters). The ABCB7 protein transports a sulfur-containing compound from mitochondria to the surrounding cellular fluid (cytosol), where Fe-S clusters are formed. These clusters are then incorporated into proteins. Proteins that contain Fe-S clusters are necessary for many functions, including the maintenance of cells and genes.

The ABCB7 protein appears to play a key role in maintaining an appropriate balance of iron (iron homeostasis) in erythroblasts.

Source: MedlinePlus, National Library of Medicine. Source publication: 2025-11-18. Source review: 2025-11.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
mitochondrial diseaseMONDO:0044970 · Evaluated 2023-09-28	X-linked	ModerateMitochondrial Diseases Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 582
Submissions for variants in or overlapping this gene: 842
Submissions explicitly reporting this gene: 678
Alleles reported pathogenic / likely pathogenic: 12
VariationIDs with uncertain significance: 144
VariationIDs with conflicting classifications: 13

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about ABCB7?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 12 alleles in ABCB7 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in ABCB7.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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