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Details of UMPS gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| UMPS | --- | P11172 | UMPS_HUMAN | 7372
| ENSG00000114491
| Uridine 5'-monophosphate synthase
Orotate phosphoribosyltransferase
Orotidine 5'-phosphate decarboxylase | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Orotic aciduria 1 (ORAC1) [MIM:258900]: A disorder of pyrimidine metabolism resulting in megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. A minority of cases have additional features, particularly congenital malformations and immune deficiencies. Note=The disease is caused by mutations affecting the gene represented in this entry. |
258900 |
Phenotypes
Abnormality of acid-base homeostasis, Abnormality of blood and blood-forming tissues, Abnormality of carboxylic acid metabolism, Abnormality of cellular immune system, Abnormality of erythrocytes, Abnormality of leukocytes, Abnormality of lymphocytes, Abnormality of metabolism/homeostasis, Abnormality of monocarboxylic acid metabolism, Abnormality of nucleobase metabolism, Abnormality of orotic acid metabolism, Abnormality of pyrimidine metabolism, Abnormality of T cells, Abnormality of the immune system, Acidosis, All, Anemia, Anemia of inadequate production, Autosomal recessive inheritance, Folate-unresponsive megaloblastic anemia, Macrocytic anemia, Megaloblastic anemia, Mode of inheritance, Orotic acid crystalluria, Oroticaciduria, Phenotypic abnormality, Pyrimidine-responsive megaloblastic anemia, Reduced orotidine 5-prime phosphate decarboxylase activity.
Orthologs in other species |
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| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
|
