UROD Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | UROD |
| Official Name | uroporphyrinogen decarboxylase [Source:HGNC Symbol;Acc:HGNC:12591] |
| Ensembl ID | ENSG00000126088 |
| Bio databases IDs | |
| Aliases | uroporphyrinogen decarboxylase |
| Synonyms | PCT, porphyrinogen carboxy-lyase, UPD, Uroporphyrinogen decarboxylase |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human UROD often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ferrous iron binding
- URO-D_CIMS_like
- uroporphyrinogen decarboxylase
- Uroporphyrinogen decarboxylase (URO-D)
- enzyme
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- acute myeloid leukemia
- hepatoerythropoietic porphyria
- porphyria cutanea tarda
- familial porphyria cutanea tarda
- UROD-related inherited porphyria
- sporadic porphyria cutanea tarda
- placental cancer
regulates
- heavy metal
- heptacarboxyl porphyrin
- UROD
- porphyrin
- heme
- uroporphyrin
- uroporphyrinogen III
- heme a
role in cell
- survival
- morphology
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Nucleus
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human UROD gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- heme O biosynthetic process
- porphyrin-containing compound metabolic process
- heme biosynthetic process
- heme a biosynthetic process
- protoporphyrinogen IX biosynthetic process
- porphyrin-containing compound catabolic process
- heme b biosynthetic process
Cellular Component
Where in the cell the gene product is active
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- uroporphyrinogen decarboxylase activity
- protein binding