Uridine monophosphate synthetase deficiency

Uridine monophosphate synthetase is the enzyme (EC 4.1.1.23) that catalyses the formation of uridine monophosphate (UMP), an energy carrying molecule in many important biosynthetic pathways.

In humans, the gene that codes for this enzyme is located on the long arm of chromosome 3 (3q13).

Deficiency of this enzyme is an inherited autosomal recessive trait in Holstein cattle, and it will cause death before birth.

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