Gene
ABCD3
ATP binding cassette subfamily D member 3
- HGNC 67↗(opens in a new tab)
- Ensembl gene ENSG00000117528↗(opens in a new tab)
- NCBI Gene 5825↗(opens in a new tab)
Summary
- Cytogenetic location
- 1p21.3
- Coordinates
- Chromosome 1: 94,418,389–94,518,663 (GRCh38)
- Exons
- 23 exons across 100.3 kb
- Protein
- 659 amino acids
- Also known as
- PMP70, ZWS2
- Previous symbols
- PXMP1
- MANE Select transcript
- ENST00000370214.9NM_002858.4
- 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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How ABCD3 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- 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 3.6 kb of the gene's 100.3 kb; 1,980 of those bases code for the protein.
Traits linked to ABCD3
The Human Phenotype Ontology lists these as features of the rare conditions ABCD3 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the musculoskeletal system
- Rimmed vacuoles
- Abnormal morphology of musculature of pharynx
- Decreased lung function due to weak breathing muscles
- Distal lower limb amyotrophy
- Progressive distal muscle weakness
- Fatigable weakness of bulbar muscles
- Progressive proximal muscle weakness
- Increased endomysial connective tissue
Show 2 more traits
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.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
Cite this page
Dante Labs. (n.d.). ABCD3 gene: ATP binding cassette subfamily D member 3. Retrieved 16 October 2026, from https://dantelabs.com/genes/abcd3
Dante Labs. ABCD3 gene: ATP binding cassette subfamily D member 3 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/abcd3
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