Gene
AHI1
Abelson helper integration site 1
- HGNC 21575(opens in a new tab)
- Ensembl gene ENSG00000135541(opens in a new tab)
- NCBI Gene 54806(opens in a new tab)
Summary
- Cytogenetic location
- 6q23.3
- Coordinates
- Chromosome 6: 135,283,532–135,497,740 (GRCh38)
- Exons
- 29 exons across 214.2 kb
- Protein
- 1,196 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- FLJ20069, ORF1, JBTS3
- MANE Select transcript
- ENST00000265602.11NM_001134831.2
- 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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Joubert Syndrome And Related Disorders
- Autosomal recessive
Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the "molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.
- ClinGen rates the link definitive
- 7 GenCC submitters rate it definitive or strong
- Joubert Syndrome
A ciliopathy defined by a malformation of the cerebellum and brainstem (the molar tooth sign), with low muscle tone, developmental delay and abnormal eye movements, sometimes with kidney, liver or eye involvement.
- ClinGen rates the link definitive
- 7 GenCC submitters rate it definitive or strong
Broader groupings
Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)
- Autosomal Recessive Cerebellar AtaxiaAutosomal recessive
One of 57 genes linked to it
A group of recessively inherited ataxias caused by biallelic variants in genes such as RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 and SYNE1.
- ClinGen rates the link definitive
- 7 GenCC submitters rate it definitive or strong
What knowing changes
Ataxia with vitamin E deficiency (TTPA) is treatable with vitamin E supplements; other forms are managed with physiotherapy and symptom care, and relatives can be offered carrier testing.
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 AHI1 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 6.1 kb of the gene's 214.2 kb; 3,591 of those bases code for the protein.
How a genome test reads AHI1
302
positions in AHI1 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 214.2 kb of AHI1, introns included, not only the 6.1 kb of exons.
Traits linked to AHI1
The Human Phenotype Ontology lists these as features of the rare conditions AHI1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the eye
- Oculomotor apraxia
- Abnormal electroretinogram
- Abnormal retinal pigmentation
- Blindness
- Breakdown of light-sensitive cells in back of eye
- Extreme sensitivity of the eyes to light
- Involuntary, rapid, rhythmic eye movements
- Optic atrophy
Show 26 more traits
- Progressive night blindness
- Retina degeneration
- Spicular pigmentation of the retina
- Visual impairment
- Abnormal central response of multifocal electroretinogram
- Abnormal full-field electroretinogram
- Bulging cornea
- Cystoid macular edema
- Difficulties with night vision
- Eye muscle paralysis
- Glaucoma
- Loss of peripheral vision
- Optic disc drusen
- Optic disc pallor
- Photoreceptor outer segment loss on macular OCT
- Posterior subcapsular cataract
- Retinal atrophy
- Abnormal color vision
- Cat eye
- Cross-eyed
- Decreased clarity of vision
- Drooping upper eyelid
- Hole in the back of the eye
- Photopsia
- Visual loss
- Pigmentary retinopathy
Abnormality of the nervous system
- Ataxia
- Cerebellar vermis hypoplasia
- Intellectual disability
- Global developmental delay
- Molar tooth sign on MRI
- Abnormal gait
- Frontal polymicrogyria
- Thin corpus callosum
Show 12 more traits
- Abnormality of neuronal migration
- Agenesis of corpus callosum
- Aplasia/Hypoplasia of the corpus callosum
- Epilepsy
- Lateral ventricle dilatation
- More grooves in brain
- Too much cerebrospinal fluid in the brain
- Tremor
- Delayed ability to walk
- Elongated superior cerebellar peduncle
- Enlarged fossa interpeduncularis
- Motor delay
Abnormality of head or neck
- Decreased width of the skull
- Long face
- Cleft of the mouth
- Cleft palate
- Encephalocele
- Highly arched eyebrow
- Nasal tip, upturned
- Prominent nasal bridge
Show 3 more traits
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.). AHI1 gene: Abelson helper integration site 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/ahi1
Dante Labs. AHI1 gene: Abelson helper integration site 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ahi1
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