Gene
ABCD4
ATP binding cassette subfamily D member 4
- HGNC 68(opens in a new tab)
- Ensembl gene ENSG00000119688(opens in a new tab)
- NCBI Gene 5826(opens in a new tab)
Summary
- Cytogenetic location
- 14q24.3
- Coordinates
- Chromosome 14: 74,285,269–74,302,934 (GRCh38)
- Exons
- 19 exons across 17.7 kb
- Protein
- 606 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- PMP69, P70R, EST352188
- Previous symbols
- PXMP1L
- MANE Select transcript
- ENST00000356924.9NM_005050.4
- 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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Get my Genome TestCurated reports relevant to this gene
Homocystinuria & Cobalamin Disorders
- HomocystinuriaAutosomal recessive
Includes classic homocystinuria due to CBS deficiency, severe MTHFR deficiency and the combined and remethylation cobalamin disorders, which can cause lens dislocation, blood clots, skeletal changes, anaemia and developmental problems.
- ClinGen rates the link moderate
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Knowing allows treatment with vitamin B6, B12, folate, betaine and diet as appropriate, which can prevent lens dislocation, thrombosis and other complications.
- Inborn Disorders of Cobalamin Metabolism and TransportAutosomal recessive
Includes defects in vitamin B12 absorption and transport such as Imerslund-Gräsbeck syndrome (CUBN, AMN), intrinsic factor deficiency (CBLIF) and transcobalamin II deficiency (TCN2), as well as intracellular cobalamin processing defects, which can cause megaloblastic anaemia, nerve damage and failure to thrive.
- ClinGen rates the link moderate
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Knowing allows lifelong vitamin B12 injections or other cobalamin treatment, which can prevent anaemia and neurological damage.
Methylmalonic & Propionic Acidemia
- Methylmalonic AcidemiaAutosomal recessive
Caused by variants in MMUT, MMAA, MMAB, MCEE and related cobalamin-processing genes, which can cause vomiting, poor feeding, metabolic crises, developmental problems and kidney disease.
- ClinGen rates the link moderate
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Knowing allows specialist dietary management, carnitine, vitamin B12 for responsive forms and an emergency plan, which reduces the risk of crises.
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How ABCD4 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 3 kb of the gene's 17.7 kb; 1,821 of those bases code for the protein.
How a genome test reads ABCD4
43
positions in ABCD4 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 17.7 kb of ABCD4, introns included, not only the 3 kb of exons.
Traits linked to ABCD4
The Human Phenotype Ontology lists these as features of the rare conditions ABCD4 can cause. Each trait's page lists the other genes linked to it.
Laboratory abnormality
- Elevated blood homocystine
- Elevated circulating propionylcarnitine concentration
- High urine homocystine levels
- Methylmalonic acidemia
- Methylmalonic aciduria
- Decreased plasma methionine
- Decreased circulating methylcobalamin concentration
- Decreased methionine synthase activity
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.). ABCD4 gene: ATP binding cassette subfamily D member 4. Retrieved 16 October 2026, from https://dantelabs.com/genes/abcd4
Dante Labs. ABCD4 gene: ATP binding cassette subfamily D member 4 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/abcd4
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