Gene
ACBD6
acyl-CoA binding domain containing 6
- HGNC 23339↗(opens in a new tab)
- Ensembl gene ENSG00000230124↗(opens in a new tab)
- NCBI Gene 84320↗(opens in a new tab)
Summary
- Cytogenetic location
- 1q25.2-q25.3
- Coordinates
- Chromosome 1: 180,288,230–180,502,577 (GRCh38)
- Exons
- 8 exons across 214.3 kb
- Protein
- 282 amino acids
- Also known as
- MGC2404
- MANE Select transcript
- ENST00000367595.4NM_032360.4
- 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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No Genome Test report reads ACBD6 yet. The test sequences your whole genome, so your data includes it all the same.
How ACBD6 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 1.3 kb of the gene's 214.3 kb; 849 of those bases code for the protein.
How a genome test reads ACBD6
1
position in ACBD6 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 214.3 kb of ACBD6, introns included, not only the 1.3 kb of exons.
Traits linked to ACBD6
The Human Phenotype Ontology lists these as features of the rare conditions ACBD6 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Agenesis of corpus callosum
- Cerebellar vermis hypoplasia
- Delayed speech and language development
- Difficulty sleeping
- Epilepsy
- Global developmental delay
- Ataxia
- Delayed ability to walk
Show 27 more traits
- Stooped posture
- Aggressive behavior
- Autism spectrum disorder
- Balance impairment
- Dystonia
- Frequent temper tantrums
- Parkinsonism
- Tic disorder
- Tremor
- Absent speech development
- Agenesis of the anterior commissure
- Generalized myoclonic seizure
- Grand mal seizures
- Inferior cerebellar vermis hypoplasia
- Partial agenesis of the corpus callosum
- Seizure affecting one half of brain
- Self-injurious behavior
- Underdevelopment of part of brain called corpus callosum
- Ventriculomegaly
- Brain degeneration
- Colpocephaly
- Degeneration of cerebellum
- Increased appetite
- Infantile spasms
- Obstructive sleep apnea
- Sudden loss of muscle tone
- Too much cerebrospinal fluid in the brain
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.
- 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.). ACBD6 gene: acyl-CoA binding domain containing 6. Retrieved 17 October 2026, from https://dantelabs.com/genes/acbd6
Dante Labs. ACBD6 gene: acyl-CoA binding domain containing 6 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/acbd6
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