Gene
FZR1
fizzy and cell division cycle 20 related 1
- HGNC 24824↗(opens in a new tab)
- Ensembl gene ENSG00000105325↗(opens in a new tab)
- NCBI Gene 51343↗(opens in a new tab)
Summary
- Cytogenetic location
- 19p13.3
- Coordinates
- Chromosome 19: 3,506,311–3,538,334 (GRCh38)
- Exons
- 14 exons across 32 kb
- Protein
- 493 amino acids
- Also known as
- HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C
- MANE Select transcript
- ENST00000441788.7NM_016263.4
- 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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Epilepsy (Full Panel)
- Epilepsy
One of 171 genes linked to it
A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.
- 3 GenCC submitters rate it definitive or strong
How FZR1 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 5.2 kb of the gene's 32 kb; 1,482 of those bases code for the protein.
Genes linked to the same conditions
- AARS1alanyl-tRNA synthetase 1Shares 1 condition
- ABAT4-aminobutyrate aminotransferaseShares 1 condition
- ACTL6Bactin like 6BShares 1 condition
- ADAM22ADAM metallopeptidase domain 22Shares 1 condition
- ALDH7A1aldehyde dehydrogenase 7 family member A1Shares 1 condition
- ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunitShares 1 condition
- AP3B2adaptor related protein complex 3 subunit beta 2Shares 1 condition
- ARHGEF9Cdc42 guanine nucleotide exchange factor 9Shares 1 condition
- ARV1ARV1 fatty acid homeostasis modulatorShares 1 condition
- ARXaristaless related homeoboxShares 1 condition
- ATP1A2ATPase Na+/K+ transporting subunit alpha 2Shares 1 condition
- ATP1A3ATPase Na+/K+ transporting subunit alpha 3Shares 1 condition
Traits linked to FZR1
The Human Phenotype Ontology lists these as features of the rare conditions FZR1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Delayed speech and language development
- Focal hemiclonic seizure
- Inability to coordinate movements when walking
- Increased reflexes
- Severe global developmental delay
- Encephalopathy
- Abnormality of coordination
- Autism spectrum disorder
Show 35 more traits
- Crouch gait
- Decreased reflex response
- Delayed CNS myelination
- EEG with multifocal slow activity
- Epilepsy
- Global developmental delay
- Grand mal seizures
- Intellectual disability
- Intellectual disability, severe
- IQ between 34 and 49
- Jerking
- Loss of developmental milestones
- More active than typical
- Myoclonic seizure
- Sudden loss of muscle tone
- Tonic seizure
- Typical absence seizure
- Abnormal corpus callosum morphology
- Abnormal gait
- Abnormal myelination
- Ataxia
- Attention deficit
- Autism
- Behavioral abnormality
- Brain degeneration
- Degeneration of cerebrum
- Diminished deep tendon reflex
- Disorder of involuntary muscle movements
- Hypsarrhythmia
- Impulsivity
- Involuntary movements
- Mental deterioration
- Tremor
- Unsteady walk
- Repeated seizures without recovery between them
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.
- 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.). FZR1 gene: fizzy and cell division cycle 20 related 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/fzr1
Dante Labs. FZR1 gene: fizzy and cell division cycle 20 related 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/fzr1
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