Gene
CAMTA1
calmodulin binding transcription activator 1
- HGNC 18806(opens in a new tab)
- Ensembl gene ENSG00000171735(opens in a new tab)
- NCBI Gene 23261(opens in a new tab)
Summary
- Cytogenetic location
- 1p36.31-p36.23
- Coordinates
- Chromosome 1: 6,785,454–7,769,706 (GRCh38)
- Exons
- 23 exons across 984.3 kb
- Protein
- 1,673 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- KIAA0833
- MANE Select transcript
- ENST00000303635.12NM_015215.4
- 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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Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)
- Autosomal Dominant Cerebellar AtaxiaAutosomal dominant
A group of dominantly inherited ataxias, including SCA1, SCA2, SCA3 (Machado-Joseph disease), SCA6, SCA7, SCA17, SCA27B and DRPLA, caused by repeat expansions or point variants in genes such as ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1 and FGF14.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
What knowing changes
Genetic counselling and presymptomatic testing for relatives, physiotherapy and symptom management; some forms, such as SCA27B, may respond to specific medication.
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How CAMTA1 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 8.3 kb of the gene's 984.3 kb; 5,022 of those bases code for the protein.
How a genome test reads CAMTA1
43
positions in CAMTA1 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 984.3 kb of CAMTA1, introns included, not only the 8.3 kb of exons.
Traits linked to CAMTA1
The Human Phenotype Ontology lists these as features of the rare conditions CAMTA1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Global developmental delay
- Hippocampal atrophy
- Intellectual disability, mild
- Delayed speech and language development
- Unsteady walk
- Abnormal cortical gyration
- Abnormal social behavior
- Aggressive behavior
Show 25 more traits
- Ataxia
- Attention deficit
- Autism spectrum disorder
- Difficulty articulating speech
- Focal myoclonic seizure
- Generalized myoclonic-atonic seizure
- Grand mal seizures
- Hand tremor
- Inability to coordinate movements when walking
- Intellectual disability
- Lack of coordination of movement
- Memory impairment
- Nonprogressive cerebellar ataxia
- Poor gross motor coordination
- Small cerebellum
- Wide based walk
- Epilepsy
- Repetitive movements
- Abnormal pyramidal sign
- Brisk reflexes
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Intention tremor
- Small hippocampus
- More active than typical
- Positive Romberg sign
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.). CAMTA1 gene: calmodulin binding transcription activator 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/camta1
Dante Labs. CAMTA1 gene: calmodulin binding transcription activator 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/camta1
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