Gene
SLC25A19
solute carrier family 25 member 19
- HGNC 14409(opens in a new tab)
- Ensembl gene ENSG00000125454(opens in a new tab)
- NCBI Gene 60386(opens in a new tab)
Summary
- Cytogenetic location
- 17q25.1
- Coordinates
- Chromosome 17: 75,272,992–75,289,433 (GRCh38)
- Exons
- 8 exons across 16.4 kb
- Protein
- 320 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- DNC, MUP1, TPC
- Previous symbols
- MCPHA
- MANE Select transcript
- ENST00000416858.7NM_001126121.2
- 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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Thiamine Transporter and Metabolism Disorders
- Disorders of Thiamine Transport and MetabolismAutosomal recessive
Inherited defects in thiamine transporters or thiamine activation, caused by genes such as SLC19A2, SLC19A3, TPK1 and SLC25A19, which can cause anaemia, diabetes and hearing loss or episodes of severe brain dysfunction.
- 4 GenCC submitters rate it definitive or strong
What knowing changes
Knowing allows early treatment with high-dose thiamine, and biotin where appropriate, which can prevent or reduce serious complications in several of these disorders.
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 SLC25A19 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 1.6 kb of the gene's 16.4 kb; 963 of those bases code for the protein.
How a genome test reads SLC25A19
3
positions in SLC25A19 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 16.4 kb of SLC25A19, introns included, not only the 1.6 kb of exons.
Traits linked to SLC25A19
The Human Phenotype Ontology lists these as features of the rare conditions SLC25A19 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the musculoskeletal system
- Low muscle tone in trunk
- Weakness of outermost muscles
- Low muscle tone
- Lower-limb joint contracture
- Muscle degeneration
- Osteoporosis
- Limitation of joint mobility
- Flexed joint that cannot be straightened
Show 1 more trait
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.). SLC25A19 gene: solute carrier family 25 member 19. Retrieved 17 October 2026, from https://dantelabs.com/genes/slc25a19
Dante Labs. SLC25A19 gene: solute carrier family 25 member 19 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/slc25a19
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