Gene
SAXO6
stabilizer of axonemal microtubules 6
- HGNC 29917↗(opens in a new tab)
- Ensembl gene ENSG00000111554↗(opens in a new tab)
- NCBI Gene 56890↗(opens in a new tab)
Summary
- Cytogenetic location
- 12q15
- Coordinates
- Chromosome 12: 68,294,566–68,332,362 (GRCh38)
- Exons
- 15 exons across 37.8 kb
- Protein
- 724 amino acids
- Previous symbols
- MDM1
- MANE Select transcript
- ENST00000682720.1NM_001354969.2
- 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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How SAXO6 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 3 kb of the gene's 37.8 kb; 2,175 of those bases code for the protein.
Traits linked to SAXO6
The Human Phenotype Ontology lists these as features of the rare conditions SAXO6 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the eye
- Abnormal electroretinogram
- Abnormal retinal pigmentation
- Blindness
- Extreme sensitivity of the eyes to light
- Involuntary, rapid, rhythmic eye movements
- Optic atrophy
- Progressive night blindness
- Retina degeneration
Show 18 more traits
- 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
- Decreased clarity of vision
- Photopsia
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.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
Cite this page
Dante Labs. (n.d.). SAXO6 gene: stabilizer of axonemal microtubules 6. Retrieved 17 October 2026, from https://dantelabs.com/genes/saxo6
Dante Labs. SAXO6 gene: stabilizer of axonemal microtubules 6 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/saxo6
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