Gene: [03q13/UMPS] orotate phosphoribosyl transferase (EC:2.4.2.10; OPRT); orotidine-5'-phosphate decarboxylase (EC:4.1.1.23; UMPS); uridine monophosphate synthetase (EC:4.1.1.23; oroticaciduria I/II); oroticaciduria I (UMPS/OPRT deficiency); oroticaciduria II (uridine monophosphate synthetase deficiency);
FUN | The bifunctional product of this gene is involved in two reactions of pyrimidine biosynthesis and possesses two enzymatic activities: OPRT and UMPS." |
PAT | [1] Oroticacidurias I and II differ biochemically in that the
type I is determined by loss of both enzymatic activities (OPRT and UMPS),
while the type II is determined by the isolated UMPS deficiency. The main
clinical characteristics are vitamin B12-, folic acid-, and iron
preparation-resistant anemia; small hypochromic erythrocytes; and
substantial accumulation of orotic acid in urine. Subclinical
manifestations are possible in heterozygotes. [2] Oroticaciduria II is described in the MIM catalogue as a second marker depending on UMPS locus, though under its own symbol, MIM:258920." |
REF | FUN,PEP,STR "Floyd,
Jones: JBC, 260, 9443-9451, 1985 PAT,PHE,FOG "Fox &: Am J Med, 55, 791-798, 1973 PAT,PHE,FOG "Harden, Robinson: J Inherit Metab Dis, 10, 201-209, 1987 LOC,CYG "Jones &: CCG, 37, (HGM7), 500, 1984 FUN,PEP,STR "Jones: Annu Rev Biochem, 49, 253-279, 1980 PRO,EXP "Kanalas &: Somat Cell Mol Genet, 11, N4, 359-369, 1985 FUN,PEP,STR "McClard &: Biochemistry, 19, 4699-4706, 1980 LOC,CYG "Patterson D &: Somat Cell Genet, 9, 359-374, 1983 LOC,MOL "Qumsiyeh MB &: Genomics, 5, 160-162, 1989 COD,SEQ,PEP,MOP,EXP,EVO "Suttle DP &: PNAS, 85, N6, 1754-1758, 1988 PAT,PHE,FOG "Suttle DP: AJHG, 37, A178, 1985 PRO,EXP "Winkler JK, Suttle: AJHG, 43, 86-94, 1988 PAT,PHE,FOG "Worthy &: PNAS, 71, 3031-3035, 1974 |
SWI | SWISSPROT: P11172 |
KEY | hem, nucm, mtbd |
CLA | coding, basic |
LOC | 03 q13 |
MIM | MIM: 258900 |
EZN | ENZYME: 2.4.2.10 |
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