Symbol: Name: ID: |
UROS uroporphyrinogen III synthase GFS:2375 |
Gene name: | UROS |
Chromosome: | 10q25.2-q26.3 |
Previous Symbols: | |
Previous Names: | |
Aliases: | |
Name Aliases: | congenital erythropoietic porphyria |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:98917 | Rat Genome Database ID: | RGD:1310396 |
HGNC ID: | HGNC:12592 | RefSeq IDs: | NM_000375 |
Entrez Gene ID: | 7390 | Ensembl Gene ID: | ENSG00000188690 |
VEGA IDs: | OTTHUMG00000019236 | UniProt ID: | P10746 |
UCSC ID: | uc001lix.3 | OMIM ID: | 606938 |
Pubmed: | PMID2037278 | ||
CCDS IDs: | CCDSCCDS7648.1 |
The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). [provided by RefSeq]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Function: Catalyzes cyclization of the linear tetrapyrrole, hydroxymethylbilane, to the macrocyclic uroporphyrinogen III, the branch point for the various sub-pathways leading to the wide diversity of porphyrins. Porphyrins act as cofactors for a multitude of enzymes that perform a variety of processes within the cell such as methionine synthesis (vitamin B12) or oxygen transport (heme).
Products for UROS gene
Catalog | Product Name | Application | Company |
GFS:E02375 | uroporphyrinogen III synthase; ELISA kit | ELISA | n/a |
GFS:A02375 | uroporphyrinogen III synthase; Anti | ANTIBODIES | n/a |
GFS:P02375 | uroporphyrinogen III synthase; Protien | Protien | n/a |