Gene

ABCB7

ATP binding cassette subfamily B member 7

Cytogenetic location: Xq13.3
Coordinates: Chromosome X: 75,051,048–75,156,283 (GRCh38)
Exons: 16 exons across 105.2 kb
Protein: 752 amino acids
Also known as: EST140535, Atm1p, ASAT
Previous symbols: ABC7
MANE Select transcript: ENST00000373394.8NM_001271696.3
Locus type: gene with protein product

Very high
Confident
Low
Very low

Reference genomeGRCh38hg38

Positions on gene and variant pages follow this choice, in this browser.

Read ABCB7, and the rest of your genome, with one test.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test

Curated report relevant to this gene

Hereditary Sideroblastic Anaemias
- Inherited Sideroblastic Anaemia
  A group of conditions caused by changes in genes such as ALAS2 and ABCB7 (X-linked), SLC25A38, GLRX5, PUS1, YARS2 and TRNT1 (recessive) and HSPA9 (dominant); some forms also affect the muscles, nervous system or immune system.
  - 4 GenCC submitters rate it definitive or strong
  What knowing changes
  The X-linked ALAS2 form often responds to vitamin B6 (pyridoxine), and a diagnosis guides iron-overload monitoring and distinguishes these conditions from acquired myelodysplastic syndrome.

How ABCB7 is laid out

Coding sequence
Untranslated region
Intron
Direction of transcription
Known disease-causing sites
Stretches short reads find hard

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 4.6 kb of the gene's 105.2 kb; 2,259 of those bases code for the protein.

How a genome test reads ABCB7

positions in ABCB7 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 105.2 kb of ABCB7, introns included, not only the 4.6 kb of exons.

Traits linked to ABCB7

The Human Phenotype Ontology lists these as features of the rare conditions ABCB7 can cause. Each trait's page lists the other genes linked to it.

Abnormality of the nervous system

Show 28 more traits

Abnormality of blood and blood-forming tissues

Show 3 more traits

Growth abnormality

Abnormality of the eye

Laboratory abnormality

External links

Gene records

Transcript

Protein

Variants

Clinical

Where this comes from

HGNC: the gene's symbol, name, other symbols and location.
MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
The ACMG secondary findings list, SF v3.2.
ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). ABCB7 gene: ATP binding cassette subfamily B member 7. Retrieved 16 October 2026, from https://dantelabs.com/genes/abcb7

Vancouver

Dante Labs. ABCB7 gene: ATP binding cassette subfamily B member 7 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/abcb7

One test. A lifetime of answers.