OMIA 000262 : Deficiency of uridine monophosphate synthase

Category: Mortality / aging (incl. embryonic lethal)

Possible human homologues (MIM numbers): 258900 (trait) , 613891 (gene)

Links to MONDO diseases: No links.

Cross-species summary: Uridine monophosphate synthase (UMPS) is the enzyme responsible for converting orotic acid to uridine monophosphate (UMP), which is an essential component of pyrimidine nucleotides. This enzyme actually has two enzymatic functions: orotic phosphoribosyltransferase (OPRTase) and orotidine monophosphate decarboxylase (OMPDCase), corresponding to the last two steps in pyrimidine synthesis. Since pyrimidines are vital ingredients of nucleic acids, it follows that a deficiency of UMPS can have quite severe consequences.

Species in which this phene is found:
cattle (Bos taurus)
water buffalo (Bubalus bubalis)

Edit History

  • Created by Frank Nicholas on 03 May 2005
  • Changed by Frank Nicholas on 09 Jan 2013
  • Changed by Imke Tammen2 on 08 Aug 2021
  • Changed by Imke Tammen2 on 11 Sep 2021