Gene
ABCD1
ATP binding cassette subfamily D member 1
- HGNC 61(opens in a new tab)
- Ensembl gene ENSG00000101986(opens in a new tab)
- NCBI Gene 215(opens in a new tab)
Summary
- Cytogenetic location
- Xq28
- Coordinates
- Chromosome X: 153,724,856–153,744,755 (GRCh38)
- Exons
- 10 exons across 19.9 kb
- Protein
- 745 amino acids
- Inheritance
- X-linked recessive
- Also known as
- AMN, ALDP, adrenoleukodystrophy
- Previous symbols
- ALD
- MANE Select transcript
- ENST00000218104.6NM_000033.4
- 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.
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X-Linked Adrenoleukodystrophy (ABCD1)
- X-linked adrenoleukodystrophy (including adrenomyeloneuropathy)X-linked recessive
ABCD1 changes cause a range of presentations in males, from adrenal insufficiency and slowly progressive spinal cord disease (adrenomyeloneuropathy) to a rapidly progressive cerebral form in childhood; many female carriers develop milder spinal cord symptoms in adulthood.
- ClinGen rates the link definitive
- 6 GenCC submitters rate it definitive or strong
What knowing changes
Boys with an ABCD1 change are offered regular brain MRI and adrenal testing so that stem cell transplantation or gene therapy can be considered while cerebral disease is still early, and adrenal insufficiency can be treated.
Broader groupings
Hereditary Spastic Paraplegia
- Hereditary Spastic Paraplegia (All Types)
One of 66 genes linked to it
Umbrella term covering all hereditary spastic paraplegias, including SPG4 (SPAST), the most common dominant form, and SPG5A, SPG6, SPG10, SPG18, SPG30 and SPG31.
- 1 GenCC submitter rates it definitive or strong
Other Inherited Leukodystrophies
- Leukodystrophy (other and unspecified types)
One of 80 genes linked to it
Inherited conditions that damage or prevent the normal formation of myelin, the white matter of the brain and spinal cord. Different types follow autosomal recessive, autosomal dominant or X-linked inheritance depending on the gene involved.
- ClinGen rates the link definitive
- 6 GenCC submitters rate it definitive or strong
What knowing changes
Knowing the specific genetic cause can end a diagnostic search, guide supportive care and surveillance, show whether a specific treatment exists, and allow testing of relatives.
Inheritance
- X-linked recessive
- The change is on the X chromosome, so one copy affects males, who have one X, while females with one are usually carriers. A carrier mother passes it on to each child with a one-in-two chance.
How ABCD1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
- Variants with a page
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 3.7 kb of the gene's 19.9 kb; 2,238 of those bases code for the protein.
How a genome test reads ABCD1
400
positions in ABCD1 where ClinVar classes a change as pathogenic or likely pathogenic
100 of them (25%) fall in regions short reads find hard.
- Low mappability (56 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
- Segmental duplications (100 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.
A whole genome covers all 19.9 kb of ABCD1, introns included, not only the 3.7 kb of exons.
Variants with a page (17)
The ABCD1 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| A95D | c.284C>A | Exon 1 | 153,725,550 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.-18_8del | Exon 1 | 153,725,248 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1A>G | Exon 1 | 153,725,267 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.346G>C | Exon 1 | 153,725,612 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.900+2T>A | Intron 1 | 153,726,168 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.900+2T>C | Intron 1 | 153,726,168 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.900+2T>G | Intron 1 | 153,726,168 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| G116R | c.346G>A | Exon 1 | 153,725,612 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K217E | c.649A>G | Exon 1 | 153,725,915 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q544R | c.1631A>G | Exon 6 | 153,740,234 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
Traits linked to ABCD1
The Human Phenotype Ontology lists these as features of the rare conditions ABCD1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Abnormality of peripheral nervous system electrophysiology
- Abnormality of the spinal cord
- Axonal degeneration
- CNS demyelination
- Decreased sensation in extremities
- Diffuse demyelination of the cerebral white matter
- Global developmental delay
- Mental deterioration
Show 56 more traits
- Myelopathy
- Peripheral axonal degeneration
- Peripheral neuropathy
- Abnormal brainstem white matter morphology
- Abnormal cerebral white matter morphology
- Abnormal periventricular white matter morphology
- Atrophy/Degeneration involving the corticospinal tracts
- Babinski sign
- Behavioral abnormality
- Brain imaging abnormality
- Cerebral dysmyelination
- Degeneration of the spinal cord
- Delayed somatosensory central conduction time
- Dorsal column degeneration
- Epilepsy
- Generalized brain degeneration
- Increased reflexes
- Nerve damage causing decreased feeling and movement
- Peripheral axonal neuropathy
- Specific learning disability
- Abnormal gait
- Abnormal speech pattern
- Apraxia
- Astereognosis
- Ataxia
- Cognitive impairment
- Confusion
- Degeneration of cerebellum
- Difficulty articulating speech
- Dysesthesia
- Dystonia
- Generalized hyperreflexia
- Hoffmann sign
- Impaired visuospatial constructive cognition
- Lack of coordination of movement
- Limb myoclonus
- Memory impairment
- More active than typical
- Short attention span
- Ventriculomegaly
- Visual agnosia
- Weakness of one side of body
- Inability to walk
- Vegetative state
- Attention deficit
- Dementia
- Impaired vibration sensation at ankles
- Incoordination
- Instability or lack of coordination of central trunk muscles
- Limb ataxia
- Loss of speech
- Ongoing loss of nerve cells
- Partial paralysis of legs
- Peripheral nerve disease
- Psychosis
- Slurred speech
Abnormality of the musculoskeletal system
- Progressive spastic paraparesis
- Functional motor deficit
- Involuntary muscle stiffness, contraction, or spasm
- Spastic walk
- Back pain
- Hamstring contractures
- Lower limb spasticity
- Spastic tetraparesis
Show 2 more traits
Abnormality of the genitourinary system
- Abnormal erection
- Abnormal libido
- Female sexual dysfunction
- Male sexual dysfunction
- Urinary bladder sphincter dysfunction
- Loss of bladder control
- Urinary retention
- Urinary urgency
Show 1 more trait
External links
Gene records
Transcript
Protein
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
Dante Labs. (n.d.). ABCD1 gene: ATP binding cassette subfamily D member 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/abcd1
Dante Labs. ABCD1 gene: ATP binding cassette subfamily D member 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/abcd1
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