UROD uroporphyrinogen decarboxylase
Gene ID: 7389, updated on 10-Dec-2024Gene type: protein coding
Also known as: PCT; UPD
- See all available tests in GTR for this gene
- Go to complete Gene record for UROD
- Go to Variation Viewer for UROD variants
Summary
This gene encodes an enzyme in the heme biosynthetic pathway. This enzyme is responsible for catalyzing the conversion of uroporphyrinogen to coproporphyrinogen through the removal of four carboxymethyl side chains. Mutations and deficiency in this enzyme are known to cause familial porphyria cutanea tarda and hepatoerythropoetic porphyria.[provided by RefSeq, Aug 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Familial porphyria cutanea tarda MedGen: C0268323OMIM: 176100GeneReviews: Familial Porphyria Cutanea Tarda, Hepatoerythropoietic Porphyria | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2024-10-04) ClinGen Genome Curation PageHaploinsufficency Some evidence for dosage pathogenicity (Last evaluated 2024-10-04) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 1p34.1
- Sequence:
- Chromosome: 1; NC_000001.11 (45012254..45015575)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for UROD variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- UROD database
- Variation ViewerRelated Variants
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