Gene: [17q2/UMPH2] uridine 5'-monophosphate phosphohydrolase 2; 5'-nucleotidase 2 (pyrimidine specific);

COM

The code EC:3.3.3.5, which is indicated for this enzyme in HGM Catalogue, is absent in the Enzyme Nomenclature."

FAG

[1] MIM describes (MIM:266120) the marker UMPH1-deficiency/hemolytic anemia, which is not mapped yet.
[2] Gene for 5'-nucleotidase (EC:3.1.3.5) has been mapped to chr 6, without indication to its specificity (GEM:06q/NT5)."

REF

FUN,MEB "Paglia &: PNAS, 81, 588-592, 1984
FUN,MEB "Swallow &: Ann Hum Genet, 47, 9-17, 1983
HIS,PHE,FOG "Valentine &: J Clin Invest, 54, 866-879, 1974
LOC "Wilson &: Ann Hum Genet, 50, 223-227, 1986

KEY

hem

CLA

coding, basic

LOC

17 q23-25

MIM

MIM: 191720

EZN

ENZYME: 3.1.3.5