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  Domain Name: UMPH-1
Pyrimidine 5'-nucleotidase (UMPH-1). This family consists of several eukaryotic pyrimidine 5'-nucleotidase proteins. P5'N-1, also known as uridine monophosphate hydrolase-1 (UMPH-1), is a member of a large functional group of enzymes, characterized by the ability to dephosphorylate nucleic acids. P5'N-1 catalyzes the dephosphorylation of pyrimidine nucleoside monophosphates to the corresponding nucleosides. Deficiencies in this proteins function can lead to several different disorders in humans.
No pairwise interactions found for the domain UMPH-1

Total Mutations Found: 10
Total Disease Mutations Found: 10
This domain occurred 2 times on human genes (4 proteins).



  HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for UMPH-1












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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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