Gene
UROS
uroporphyrinogen III synthase
- HGNC 12592(opens in a new tab)
- Ensembl gene ENSG00000188690(opens in a new tab)
- NCBI Gene 7390(opens in a new tab)
Summary
- Cytogenetic location
- 10q26.2
- Coordinates
- Chromosome 10: 125,788,586–125,823,258 (GRCh38)
- Exons
- 10 exons across 34.7 kb
- Protein
- 265 amino acids
- MANE Select transcript
- ENST00000368797.10NM_000375.3
- 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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Porphyria
Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. Most types are inherited, but porphyria cutanea tarda may also be due to increased iron in the liver, hepatitis C, alcohol, or HIV/AIDS.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
What knowing changes
Attack prevention through trigger avoidance, IV dextrose or hemin during acute attacks, RNA interference therapy (givosiran), genetic counseling
How UROS 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 1.3 kb of the gene's 34.7 kb; 798 of those bases code for the protein.
How a genome test reads UROS
9
positions in UROS 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 34.7 kb of UROS, introns included, not only the 1.3 kb of exons.
Traits linked to UROS
The Human Phenotype Ontology lists these as features of the rare conditions UROS can cause. Each trait's page lists the other genes linked to it.
Abnormality of blood and blood-forming tissues
- Hemolytic anemia
- Low platelet count
- Bleeding tendency
- Decreased blood leukocyte number
- Erythroid hyperplasia
- Increased immature red blood cells
- Poikilocytosis
- Unequal size of red blood cells
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.). UROS gene: uroporphyrinogen III synthase. Retrieved 17 October 2026, from https://dantelabs.com/genes/uros
Dante Labs. UROS gene: uroporphyrinogen III synthase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/uros
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