UCK2

Chr 1

uridine-cytidine kinase 2

Also known as: TSA903, UK, UMPK

NCBI Gene: 7371 ENSG00000143179 UniProt: Q9BZX2 OMIM: 609329

The encoded pyrimidine ribonucleoside kinase phosphorylates uridine and cytidine to their respective monophosphate forms (UMP and CMP), essential steps in pyrimidine nucleotide metabolism. Mutations cause autosomal recessive microcephaly, intellectual disability, and seizures with early childhood onset. This gene shows moderate constraint against loss-of-function variants (pLI 0.72, LOEUF 0.487), consistent with its essential metabolic role.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a pyrimidine ribonucleoside kinase. The encoded protein (EC 2.7.1.48) catalyzes phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP), respectively.[provided by RefSeq, Oct 2010]

OMIM ResearchGenerating clinical summary…

LOEUF 0.49

Clinical Summary— UCK2

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Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.72) — some intolerance to loss-of-function variants.

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