Gene
SLC25A46
solute carrier family 25 member 46
- HGNC 25198↗(opens in a new tab)
- Ensembl gene ENSG00000164209↗(opens in a new tab)
- NCBI Gene 91137↗(opens in a new tab)
Summary
- Cytogenetic location
- 5q22.1
- Coordinates
- Chromosome 5: 110,739,007–110,765,157 (GRCh38)
- Exons
- 8 exons across 26.2 kb
- Protein
- 418 amino acids
- MANE Select transcript
- ENST00000355943.8NM_138773.4
- 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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Get my Genome TestCurated reports relevant to this gene
No Genome Test report reads SLC25A46 yet. The test sequences your whole genome, so your data includes it all the same.
How SLC25A46 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 4.7 kb of the gene's 26.2 kb; 1,257 of those bases code for the protein.
How a genome test reads SLC25A46
21
positions in SLC25A46 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 26.2 kb of SLC25A46, introns included, not only the 4.7 kb of exons.
Traits linked to SLC25A46
The Human Phenotype Ontology lists these as features of the rare conditions SLC25A46 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Hypoplasia of the pons
- Peripheral axonal neuropathy
- Severe global developmental delay
- Small cerebellum
- Absent/small cerebellum
- Decreased reflex response
- Degeneration of anterior horn cells
- Global developmental delay
Show 21 more traits
- Motor delay
- Ataxia
- Degeneration of cerebellum
- Jerking
- Nerve damage causing decreased feeling and movement
- Absent reflexes
- Babinski sign
- Cerebellar cyst
- Cerebellar gliosis
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Delayed speech and language development
- EEG with burst suppression
- Epilepsy
- Inability to coordinate movements when walking
- Increased reflexes
- Intention tremor
- Lack of coordination of movement
- Thin corpus callosum
- Decreased sensation in extremities
- High stepping
- Tremor
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.). SLC25A46 gene: solute carrier family 25 member 46. Retrieved 17 October 2026, from https://dantelabs.com/genes/slc25a46
Dante Labs. SLC25A46 gene: solute carrier family 25 member 46 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/slc25a46
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