Gene
KLHL20
kelch like family member 20
- HGNC 25056↗(opens in a new tab)
- Ensembl gene ENSG00000076321↗(opens in a new tab)
- NCBI Gene 27252↗(opens in a new tab)
Summary
- Cytogenetic location
- 1q25.1
- Coordinates
- Chromosome 1: 173,714,981–173,786,692 (GRCh38)
- Exons
- 12 exons across 71.7 kb
- Protein
- 609 amino acids
- Also known as
- KLEIP, KHLHX
- MANE Select transcript
- ENST00000209884.5NM_014458.4
- 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 KLHL20 yet. The test sequences your whole genome, so your data includes it all the same.
How KLHL20 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 3.4 kb of the gene's 71.7 kb; 1,830 of those bases code for the protein.
How a genome test reads KLHL20
1
position in KLHL20 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 71.7 kb of KLHL20, introns included, not only the 3.4 kb of exons.
Traits linked to KLHL20
The Human Phenotype Ontology lists these as features of the rare conditions KLHL20 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Absent speech development
- Bilateral tonic-clonic seizure with focal onset
- Bilateral tonic-clonic seizure with generalized onset
- Delayed ability to roll over
- Delayed speech and language development
- Epilepsy
- Focal impaired awareness seizure
- Global developmental delay
Show 27 more traits
- Grand mal seizures
- Hypsarrhythmia
- Infantile spasms
- Inferior cerebellar vermis hypoplasia
- Intellectual disability, mild
- Intellectual disability, severe
- IQ between 34 and 49
- Jumping
- Myoclonic seizure
- Non-convulsive status epilepticus without coma
- Recurrent hand flapping
- Reduced cerebral white matter volume
- Repeated seizures without recovery between them
- Repetitive movements
- Stereotypical body rocking
- Sudden loss of muscle tone
- Thin corpus callosum
- Tonic seizure
- Typical absence seizure
- Autism spectrum disorder
- Interictal EEG abnormality
- Aggressive behavior
- Delayed ability to walk
- Loss of developmental milestones
- More active than typical
- Dystonia
- Dystonic gait
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.). KLHL20 gene: kelch like family member 20. Retrieved 16 October 2026, from https://dantelabs.com/genes/klhl20
Dante Labs. KLHL20 gene: kelch like family member 20 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/klhl20
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